CleftGeneDB-Search

Gene: PRICKLE1

Basic information

Tag	Content
Uniprot ID	Q96MT3; Q14C83; Q71QF8; Q96N00;
Entrez ID	144165
Genbank protein ID	AAI14940.1; BAB71198.1; AAQ03035.1; AAI14941.1; BAB71116.1;
Genbank nucleotide ID	XM_017018840.1; XM_011537946.1; NM_001144883.1; NM_153026.2; XM_011537947.2; NM_001144882.1; NM_001144881.1; XM_017018839.1; XM_017018838.1;
Ensembl protein ID	ENSP00000401060; ENSP00000345064; ENSP00000492644; ENSP00000492763; ENSP00000398947; ENSP00000491228; ENSP00000492332; ENSP00000491051; ENSP00000449819; ENSP00000448359;
Ensembl nucleotide ID	ENSG00000139174
Gene name	Prickle-like protein 1
Gene symbol	PRICKLE1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Involved in the planar cell polarity pathway that controls convergent extension during gastrulation and neural tube closure. Convergent extension is a complex morphogenetic process during which cells elongate, move mediolaterally, and intercalate between neighboring cells, leading to convergence toward the mediolateral axis and extension along the anteroposterior axis. Necessary for nuclear localization of REST. May serve as nuclear receptor.
Sequence	MPLEMEPKMS KLAFGCQRSS TSDDDSGCAL EEYAWVPPGL RPEQIQLYFA CLPEEKVPYV 60 NSPGEKHRIK QLLYQLPPHD NEVRYCQSLS EEEKKELQVF SAQRKKEALG RGTIKLLSRA 120 VMHAVCEQCG LKINGGEVAV FASRAGPGVC WHPSCFVCFT CNELLVDLIY FYQDGKIHCG 180 RHHAELLKPR CSACDEIIFA DECTEAEGRH WHMKHFCCLE CETVLGGQRY IMKDGRPFCC 240 GCFESLYAEY CETCGEHIGV DHAQMTYDGQ HWHATEACFS CAQCKASLLG CPFLPKQGQI 300 YCSKTCSLGE DVHASDSSDS AFQSARSRDS RRSVRMGKSS RSADQCRQSL LLSPALNYKF 360 PGLSGNADDT LSRKLDDLSL SRQGTSFASE EFWKGRVEQE TPEDPEEWAD HEDYMTQLLL 420 KFGDKSLFQP QPNEMDIRAS EHWISDNMVK SKTELKQNNQ SLASKKYQSD MYWAQSQDGL 480 GDSAYGSHPG PASSRRLQEL ELDHGASGYN HDETQWYEDS LECLSDLKPE QSVRDSMDSL 540 ALSNITGASV DGENKPRPSL YSLQNFEEME TEDCEKMSNM GTLNSSMLHR SAESLKSLSS 600 ELCPEKILPE EKPVHLPVLR RSKSQSRPQQ VKFSDDVIDN GNYDIEIRQP PMSERTRRRV 660 YNFEERGSRS HHHRRRRSRK SRSDNALNLV TERKYSPKDR LRLYTPDNYE KFIQNKSARE 720 IQAYIQNADL YGQYAHATSD YGLQNPGMNR FLGLYGEDDD SWCSSSSSSS DSEEEGYFLG 780 QPIPQPRPQR FAYYTDDLSS PPSALPTPQF GQRTTKSKKK KGHKGKNCII S 831

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	PRICKLE1	102182103	A0A452ECU1		Capra hircus	Prediction	More>>
1:1 ortholog	PRICKLE1	100050052	F6Z985		Equus caballus	Prediction	More>>
1:1 ortholog	PRICKLE1	144165	Q96MT3		Homo sapiens	Prediction	More>>
1:1 ortholog	Prickle1	106042	Q3U5C7	CPO	Mus musculus	Publication	More>>
1:1 ortholog	PRICKLE1	451838	A0A2I3TH70		Pan troglodytes	Prediction	More>>
1:1 ortholog	PRICKLE1		G1TZ88		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Prickle1	315259	G3V8Z4		Rattus norvegicus	Prediction	More>>
1:1 ortholog	prickle1a	368249	F1Q6J9		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
COSM6136633	p.Pro2Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42472512G>A	NCI-TCGA Cosmic
RCV000188752	p.Leu3Ter	frameshift	-	NC_000012.12:g.42472511del	ClinVar
rs762525821	p.Glu4Lys	missense variant	-	NC_000012.12:g.42472507C>T	ExAC,TOPMed,gnomAD
rs1277312943	p.Glu6Ala	missense variant	-	NC_000012.12:g.42472500T>G	gnomAD
rs1184318847	p.Pro7Arg	missense variant	-	NC_000012.12:g.42472497G>C	TOPMed
rs1448904062	p.Pro7Ser	missense variant	-	NC_000012.12:g.42472498G>A	TOPMed
rs566073131	p.Met9Val	missense variant	-	NC_000012.12:g.42472492T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000646044	p.Met9Val	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472492T>C	ClinVar
RCV000188733	p.Met9Val	missense variant	-	NC_000012.12:g.42472492T>C	ClinVar
rs1309411802	p.Ser10Asn	missense variant	-	NC_000012.12:g.42472488C>T	gnomAD
rs752821879	p.Leu12Met	missense variant	-	NC_000012.12:g.42472483G>T	ExAC,TOPMed,gnomAD
rs752821879	p.Leu12Met	missense variant	-	NC_000012.12:g.42472483G>T	NCI-TCGA
rs770828628	p.Ala13Thr	missense variant	-	NC_000012.12:g.42472480C>T	ExAC,TOPMed,gnomAD
rs770828628	p.Ala13Ser	missense variant	-	NC_000012.12:g.42472480C>A	ExAC,TOPMed,gnomAD
rs1258793726	p.Gly15Ser	missense variant	-	NC_000012.12:g.42472474C>T	TOPMed,gnomAD
RCV000233986	p.Cys16Tyr	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472470C>T	ClinVar
rs746768839	p.Cys16Tyr	missense variant	-	NC_000012.12:g.42472470C>T	ExAC,TOPMed,gnomAD
rs771838146	p.Gln17Pro	missense variant	-	NC_000012.12:g.42472467T>G	ExAC,TOPMed,gnomAD
rs1452679799	p.Ser19Asn	missense variant	-	NC_000012.12:g.42472461C>T	TOPMed
rs780328472	p.Thr21Ala	missense variant	-	NC_000012.12:g.42472456T>C	ExAC,gnomAD
RCV000694485	p.Asp24Glu	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472445A>C	ClinVar
rs1254259436	p.Gly27Ser	missense variant	-	NC_000012.12:g.42472438C>T	gnomAD
rs1197477093	p.Leu30Ser	missense variant	-	NC_000012.12:g.42472428A>G	gnomAD
rs1244431519	p.Tyr33His	missense variant	-	NC_000012.12:g.42472420A>G	TOPMed
RCV000656032	p.Ala34Thr	missense variant	Rolandic epilepsy	NC_000012.12:g.42472417C>T	ClinVar
RCV000480478	p.Ala34Val	missense variant	-	NC_000012.12:g.42472416G>A	ClinVar
rs781255236	p.Ala34Thr	missense variant	-	NC_000012.12:g.42472417C>T	NCI-TCGA
rs139176541	p.Ala34Val	missense variant	-	NC_000012.12:g.42472416G>A	ESP,gnomAD
rs781255236	p.Ala34Ser	missense variant	-	NC_000012.12:g.42472417C>A	ExAC,TOPMed,gnomAD
rs781255236	p.Ala34Thr	missense variant	-	NC_000012.12:g.42472417C>T	ExAC,TOPMed,gnomAD
rs145493619	p.Pro38Leu	missense variant	-	NC_000012.12:g.42472404G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000188734	p.Pro38Leu	missense variant	-	NC_000012.12:g.42472404G>A	ClinVar
rs145493619	p.Pro38Arg	missense variant	-	NC_000012.12:g.42472404G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1329186728	p.Gly39Arg	missense variant	-	NC_000012.12:g.42472402C>G	gnomAD
rs1289872571	p.Leu40Gln	missense variant	-	NC_000012.12:g.42472398A>T	gnomAD
rs753183614	p.Pro42Leu	missense variant	-	NC_000012.12:g.42472392G>A	ExAC
rs758787019	p.Pro42Ser	missense variant	-	NC_000012.12:g.42472393G>A	ExAC,gnomAD
rs1366445021	p.Glu43Gln	missense variant	-	NC_000012.12:g.42472390C>G	gnomAD
NCI-TCGA novel	p.Gln46His	missense variant	-	NC_000012.12:g.42470354C>A	NCI-TCGA
RCV000529906	p.Leu47Ter	frameshift	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42470353del	ClinVar
rs1311319381	p.Tyr48Cys	missense variant	-	NC_000012.12:g.42470349T>C	gnomAD
rs745883137	p.Ala50Thr	missense variant	-	NC_000012.12:g.42470344C>T	ExAC,gnomAD
rs745883137	p.Ala50Pro	missense variant	-	NC_000012.12:g.42470344C>G	ExAC,gnomAD
rs781477633	p.Cys51Arg	missense variant	-	NC_000012.12:g.42470341A>G	ExAC,TOPMed,gnomAD
rs747418341	p.Glu54Gly	missense variant	-	NC_000012.12:g.42470331T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu55Lys	missense variant	-	NC_000012.12:g.42470329C>T	NCI-TCGA
rs1436512644	p.Val57Phe	missense variant	-	NC_000012.12:g.42470323C>A	gnomAD
NCI-TCGA novel	p.Pro58Ser	missense variant	-	NC_000012.12:g.42470320G>A	NCI-TCGA
rs1359965296	p.Val60Ile	missense variant	-	NC_000012.12:g.42470314C>T	TOPMed,gnomAD
rs1359965296	p.Val60Leu	missense variant	-	NC_000012.12:g.42470314C>G	TOPMed,gnomAD
rs754498750	p.Asn61Ser	missense variant	-	NC_000012.12:g.42470310T>C	ExAC,gnomAD
rs779382629	p.Asn61Asp	missense variant	-	NC_000012.12:g.42470311T>C	ExAC,gnomAD
rs140262447	p.Ser62Gly	missense variant	-	NC_000012.12:g.42470308T>C	1000Genomes,ExAC,gnomAD
rs1450074684	p.Pro63Ser	missense variant	-	NC_000012.12:g.42470305G>A	gnomAD
rs760293523	p.Pro63Leu	missense variant	-	NC_000012.12:g.42470304G>A	ExAC,gnomAD
rs767281272	p.Gly64Arg	missense variant	-	NC_000012.12:g.42470302C>T	ExAC,TOPMed
NCI-TCGA novel	p.Glu65Lys	missense variant	-	NC_000012.12:g.42470299C>T	NCI-TCGA
rs761685361	p.His67Arg	missense variant	-	NC_000012.12:g.42470292T>C	ExAC,gnomAD
COSM3772613	p.Arg68Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42470290G>A	NCI-TCGA Cosmic
rs774440655	p.Arg68Gln	missense variant	-	NC_000012.12:g.42470289C>T	ExAC,gnomAD
rs141795695	p.Ile69Thr	missense variant	-	NC_000012.12:g.42470286A>G	ESP,ExAC,TOPMed,gnomAD
rs141795695	p.Ile69Thr	missense variant	-	NC_000012.12:g.42470286A>G	UniProt,dbSNP
VAR_066850	p.Ile69Thr	missense variant	-	NC_000012.12:g.42470286A>G	UniProt
rs759716073	p.Lys70Gln	missense variant	-	NC_000012.12:g.42470284T>G	ExAC,gnomAD
rs925234164	p.Leu72Val	missense variant	-	NC_000012.12:g.42470278G>C	gnomAD
NCI-TCGA novel	p.Leu73Phe	missense variant	-	NC_000012.12:g.42470273C>A	NCI-TCGA
COSM939266	p.Leu76Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42470265A>G	NCI-TCGA Cosmic
rs1402955748	p.His79Arg	missense variant	-	NC_000012.12:g.42470256T>C	TOPMed,gnomAD
rs1402955748	p.His79Leu	missense variant	-	NC_000012.12:g.42470256T>A	TOPMed,gnomAD
rs1166524580	p.Asp80Val	missense variant	-	NC_000012.12:g.42470253T>A	gnomAD
rs796052934	p.Asn81His	missense variant	-	NC_000012.12:g.42470251T>G	TOPMed,gnomAD
rs764145941	p.Val83Ile	missense variant	-	NC_000012.12:g.42469587C>T	ExAC,gnomAD
rs766439768	p.Arg84Gln	missense variant	-	NC_000012.12:g.42469583C>T	ExAC,TOPMed,gnomAD
rs775472022	p.Arg84Trp	missense variant	-	NC_000012.12:g.42469584G>A	ExAC,TOPMed,gnomAD
COSM693111	p.Gln87Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42469574T>A	NCI-TCGA Cosmic
rs868235074	p.Leu89Ser	missense variant	-	NC_000012.12:g.42469568A>G	gnomAD
rs868235074	p.Leu89Ter	stop gained	-	NC_000012.12:g.42469568A>T	gnomAD
rs1208843941	p.Ser90Asn	missense variant	-	NC_000012.12:g.42469565C>T	TOPMed
COSM6136634	p.Glu92Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42469558C>A	NCI-TCGA Cosmic
rs760798462	p.Glu93Gly	missense variant	-	NC_000012.12:g.42469556T>C	ExAC,gnomAD
rs773322867	p.Val99Leu	missense variant	-	NC_000012.12:g.42469539C>A	ExAC,gnomAD
COSM3460672	p.Gln103Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.42469527G>A	NCI-TCGA Cosmic
rs113994140	p.Arg104Gln	missense variant	-	NC_000012.12:g.42469523C>T	ESP,ExAC,TOPMed,gnomAD
rs772217655	p.Arg104Trp	missense variant	-	NC_000012.12:g.42469524G>A	ExAC,TOPMed,gnomAD
RCV000431708	p.Arg104Gln	missense variant	-	NC_000012.12:g.42469523C>T	ClinVar
rs201983132	p.Glu107Ala	missense variant	-	NC_000012.12:g.42469514T>G	ExAC,gnomAD
rs749826585	p.Ala108Thr	missense variant	-	NC_000012.12:g.42469512C>T	ExAC,TOPMed,gnomAD
rs1328518516	p.Ile114Thr	missense variant	-	NC_000012.12:g.42469493A>G	gnomAD
NCI-TCGA novel	p.Ile114Leu	missense variant	-	NC_000012.12:g.42469494T>G	NCI-TCGA
COSM284241	p.Leu117Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42469485G>T	NCI-TCGA Cosmic
rs755590703	p.Ser118Thr	missense variant	-	NC_000012.12:g.42469482A>T	ExAC
rs961991320	p.Arg119Thr	missense variant	-	NC_000012.12:g.42469478C>G	TOPMed,gnomAD
rs1189848927	p.Val121Gly	missense variant	-	NC_000012.12:g.42469472A>C	TOPMed
rs371720624	p.Val121Leu	missense variant	-	NC_000012.12:g.42469473C>G	gnomAD
rs371720624	p.Val121Ile	missense variant	-	NC_000012.12:g.42469473C>T	UniProt,dbSNP
VAR_066852	p.Val121Ile	missense variant	-	NC_000012.12:g.42469473C>T	UniProt
rs371720624	p.Val121Ile	missense variant	-	NC_000012.12:g.42469473C>T	gnomAD
rs1343849513	p.Met122Val	missense variant	-	NC_000012.12:g.42469470T>C	gnomAD
rs745306550	p.Met122Ile	missense variant	-	NC_000012.12:g.42469468C>A	ExAC,gnomAD
rs1415980204	p.His123Pro	missense variant	-	NC_000012.12:g.42469466T>G	TOPMed
rs79087668	p.Ala124Thr	missense variant	-	NC_000012.12:g.42469464C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000656031	p.Ala124Thr	missense variant	Rolandic epilepsy	NC_000012.12:g.42469464C>T	ClinVar
NCI-TCGA novel	p.Ala124Asp	missense variant	-	NC_000012.12:g.42469463G>T	NCI-TCGA
rs34837068	p.Val125Ala	missense variant	-	NC_000012.12:g.42469460A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756916881	p.Val125Met	missense variant	-	NC_000012.12:g.42469461C>T	ExAC,TOPMed,gnomAD
RCV000400769	p.Val125Ala	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42469460A>G	ClinVar
rs1455206397	p.Glu127Lys	missense variant	-	NC_000012.12:g.42469455C>T	gnomAD
rs1473902641	p.Gly130Val	missense variant	-	NC_000012.12:g.42468825C>A	TOPMed
RCV000188726	p.Leu131Val	missense variant	-	NC_000012.12:g.42468823A>C	ClinVar
RCV000718412	p.Leu131Val	missense variant	-	NC_000012.12:g.42468823A>C	ClinVar
RCV000525462	p.Leu131Val	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468823A>C	ClinVar
rs35731866	p.Leu131Val	missense variant	-	NC_000012.12:g.42468823A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200558941	p.Asn134His	missense variant	-	NC_000012.12:g.42468814T>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000540316	p.Asn134His	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468814T>G	ClinVar
rs773739764	p.Gly136Arg	missense variant	-	NC_000012.12:g.42468808C>G	ExAC,gnomAD
rs773739764	p.Gly136Ser	missense variant	-	NC_000012.12:g.42468808C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu137Asp	missense variant	-	NC_000012.12:g.42468803T>G	NCI-TCGA
rs533095698	p.Glu137Ala	missense variant	-	NC_000012.12:g.42468804T>G	1000Genomes,ExAC,gnomAD
rs564918219	p.Phe141Cys	missense variant	-	NC_000012.12:g.42468792A>C	1000Genomes,ExAC,gnomAD
rs1060502984	p.Ala142Thr	missense variant	-	NC_000012.12:g.42468790C>T	gnomAD
rs796052928	p.Ala142Val	missense variant	-	NC_000012.12:g.42468789G>A	-
RCV000188736	p.Ala142Val	missense variant	-	NC_000012.12:g.42468789G>A	ClinVar
RCV000460208	p.Ala142Thr	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468790C>T	ClinVar
rs758143303	p.Ser143Phe	missense variant	-	NC_000012.12:g.42468786G>A	ExAC,TOPMed,gnomAD
rs281865563	p.Arg144His	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42468783C>T	UniProt,dbSNP
VAR_065580	p.Arg144His	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42468783C>T	UniProt
rs281865563	p.Arg144His	missense variant	-	NC_000012.12:g.42468783C>T	ExAC,TOPMed,gnomAD
rs1284958285	p.Arg144Cys	missense variant	-	NC_000012.12:g.42468784G>A	TOPMed
RCV000188738	p.Arg144His	missense variant	-	NC_000012.12:g.42468783C>T	ClinVar
rs765119777	p.Ala145Val	missense variant	-	NC_000012.12:g.42468780G>A	ExAC,TOPMed,gnomAD
RCV000475800	p.Ala145Val	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468780G>A	ClinVar
RCV000179021	p.Ala145Val	missense variant	-	NC_000012.12:g.42468780G>A	ClinVar
rs767649857	p.Gly146Val	missense variant	-	NC_000012.12:g.42468777C>A	ExAC,TOPMed,gnomAD
rs753753811	p.Gly146Ser	missense variant	-	NC_000012.12:g.42468778C>T	ExAC,TOPMed,gnomAD
rs751791144	p.Val149Met	missense variant	-	NC_000012.12:g.42468769C>T	ExAC,gnomAD
rs528557291	p.Val149Ala	missense variant	-	NC_000012.12:g.42468768A>G	1000Genomes,ExAC,gnomAD
RCV000687860	p.Cys150Arg	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468766A>G	ClinVar
rs775872848	p.Phe156Ser	missense variant	-	NC_000012.12:g.42468747A>G	ExAC,gnomAD
rs770028506	p.Val157Ile	missense variant	-	NC_000012.12:g.42468745C>T	ExAC,gnomAD
rs1191001127	p.Phe159Val	missense variant	-	NC_000012.12:g.42468739A>C	gnomAD
rs1471867585	p.Phe159Tyr	missense variant	-	NC_000012.12:g.42468738A>T	gnomAD
rs777277493	p.Thr160Met	missense variant	-	NC_000012.12:g.42468735G>A	ExAC,TOPMed,gnomAD
rs1237014773	p.Thr160Ala	missense variant	-	NC_000012.12:g.42468736T>C	TOPMed,gnomAD
rs777575981	p.Leu164Pro	missense variant	-	NC_000012.12:g.42468723A>G	ExAC,gnomAD
rs746462801	p.Leu164Val	missense variant	-	NC_000012.12:g.42468724G>C	ExAC,gnomAD
rs1158812381	p.Val166Phe	missense variant	-	NC_000012.12:g.42468718C>A	gnomAD
NCI-TCGA novel	p.Asp167Asn	missense variant	-	NC_000012.12:g.42468715C>T	NCI-TCGA
rs1341137672	p.Ile169Thr	missense variant	-	NC_000012.12:g.42468708A>G	gnomAD
rs771717707	p.Tyr170Cys	missense variant	-	NC_000012.12:g.42468705T>C	ExAC,TOPMed,gnomAD
COSM6136635	p.Tyr170His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42468706A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr172Ser	missense variant	-	NC_000012.12:g.42468699T>G	NCI-TCGA
rs747920863	p.Gln173Glu	missense variant	-	NC_000012.12:g.42468697G>C	ExAC,gnomAD
rs778817395	p.Asp174Gly	missense variant	-	NC_000012.12:g.42468693T>C	ExAC,gnomAD
rs1160750296	p.Asp174Tyr	missense variant	-	NC_000012.12:g.42468694C>A	TOPMed
NCI-TCGA novel	p.Ile177Met	missense variant	-	NC_000012.12:g.42468683A>C	NCI-TCGA
rs754699794	p.Gly180Val	missense variant	-	NC_000012.12:g.42468675C>A	ExAC,gnomAD
COSM693112	p.Glu185Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42468661C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu187His	missense variant	-	NC_000012.12:g.42468654A>T	NCI-TCGA
rs751596896	p.Pro189Leu	missense variant	-	NC_000012.12:g.42468648G>A	ExAC,TOPMed,gnomAD
rs1455993779	p.Arg190Gln	missense variant	-	NC_000012.12:g.42468645C>T	gnomAD
NCI-TCGA novel	p.Arg190Trp	missense variant	-	NC_000012.12:g.42468646G>A	NCI-TCGA
rs1313880146	p.Cys191Tyr	missense variant	-	NC_000012.12:g.42468642C>T	TOPMed
rs759969939	p.Glu196Lys	missense variant	-	NC_000012.12:g.42468628C>T	ExAC
COSM4876865	p.Ile197Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42466380T>C	NCI-TCGA Cosmic
rs542029566	p.Ile197Thr	missense variant	-	NC_000012.12:g.42466379A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ile198Ser	missense variant	-	NC_000012.12:g.42466376A>C	NCI-TCGA
rs1300341380	p.Asp201Asn	missense variant	-	NC_000012.12:g.42466368C>T	TOPMed,gnomAD
rs1434685000	p.Asp201Val	missense variant	-	NC_000012.12:g.42466367T>A	gnomAD
rs1486749442	p.Glu202Lys	missense variant	-	NC_000012.12:g.42466365C>T	gnomAD
rs1324733484	p.Thr204Ala	missense variant	-	NC_000012.12:g.42466359T>C	gnomAD
rs1489278936	p.Glu207Asp	missense variant	-	NC_000012.12:g.42466348C>G	TOPMed
rs758400992	p.Arg209His	missense variant	-	NC_000012.12:g.42466343C>T	ExAC,TOPMed,gnomAD
rs777944504	p.Arg209Ser	missense variant	-	NC_000012.12:g.42466344G>T	ExAC,TOPMed,gnomAD
RCV000538936	p.Arg209Cys	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466344G>A	ClinVar
rs777944504	p.Arg209Cys	missense variant	-	NC_000012.12:g.42466344G>A	ExAC,TOPMed,gnomAD
rs1424291875	p.Met213Ile	missense variant	-	NC_000012.12:g.42466330C>T	TOPMed
rs765322400	p.Met213Leu	missense variant	-	NC_000012.12:g.42466332T>G	ExAC,gnomAD
rs1178731670	p.Lys214Thr	missense variant	-	NC_000012.12:g.42466328T>G	TOPMed,gnomAD
rs1246075272	p.His215Tyr	missense variant	-	NC_000012.12:g.42466326G>A	gnomAD
NCI-TCGA novel	p.Phe216Ile	missense variant	-	NC_000012.12:g.42466323A>T	NCI-TCGA
rs1366452897	p.Phe216Leu	missense variant	-	NC_000012.12:g.42466321G>C	TOPMed
rs772276749	p.Cys217Arg	missense variant	-	NC_000012.12:g.42466320A>G	ExAC,TOPMed,gnomAD
RCV000398777	p.Cys217Arg	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466320A>G	ClinVar
rs1469737110	p.Leu219Pro	missense variant	-	NC_000012.12:g.42466313A>G	gnomAD
rs200263143	p.Glu220Lys	missense variant	-	NC_000012.12:g.42466311C>T	1000Genomes
rs754218148	p.Thr223Met	missense variant	-	NC_000012.12:g.42466301G>A	ExAC,gnomAD
RCV000646041	p.Thr223Met	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466301G>A	ClinVar
RCV000712848	p.Thr223Met	missense variant	-	NC_000012.12:g.42466301G>A	ClinVar
rs1016727048	p.Val224Ile	missense variant	-	NC_000012.12:g.42466299C>T	TOPMed,gnomAD
rs1308626806	p.Arg229Met	missense variant	-	NC_000012.12:g.42466283C>A	gnomAD
rs773561952	p.Tyr230Cys	missense variant	-	NC_000012.12:g.42466280T>C	ExAC,gnomAD
rs1443820017	p.Lys233Asn	missense variant	-	NC_000012.12:g.42466270C>A	TOPMed,gnomAD
RCV000716774	p.Lys233Asn	missense variant	-	NC_000012.12:g.42466270C>A	ClinVar
RCV000814211	p.Lys233Asn	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466270C>A	ClinVar
rs375197568	p.Gly235Ser	missense variant	-	NC_000012.12:g.42466266C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000597357	p.Gly235Ser	missense variant	-	NC_000012.12:g.42466266C>T	ClinVar
NCI-TCGA novel	p.Gly235Asp	missense variant	-	NC_000012.12:g.42466265C>T	NCI-TCGA
rs1457774536	p.Arg236Leu	missense variant	-	NC_000012.12:g.42466262C>A	TOPMed,gnomAD
rs1457774536	p.Arg236His	missense variant	-	NC_000012.12:g.42466262C>T	TOPMed,gnomAD
rs372213429	p.Arg236Cys	missense variant	-	NC_000012.12:g.42466263G>A	ESP,ExAC,TOPMed,gnomAD
rs796052930	p.Phe238Ser	missense variant	-	NC_000012.12:g.42466256A>G	-
RCV000188739	p.Phe238Ser	missense variant	-	NC_000012.12:g.42466256A>G	ClinVar
rs774058029	p.Cys240Arg	missense variant	-	NC_000012.12:g.42466251A>G	ExAC,gnomAD
rs74918611	p.Cys242Trp	missense variant	-	NC_000012.12:g.42466243A>C	ExAC,gnomAD
rs775310173	p.Glu244Ter	stop gained	-	NC_000012.12:g.42466239C>A	ExAC,gnomAD
rs769543803	p.Glu244Val	missense variant	-	NC_000012.12:g.42466238T>A	ExAC
rs997832538	p.Ser245Thr	missense variant	-	NC_000012.12:g.42466236A>T	TOPMed,gnomAD
rs745880716	p.Leu246Ile	missense variant	-	NC_000012.12:g.42466233G>T	ExAC
COSM3368809	p.Tyr247Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42466229T>C	NCI-TCGA Cosmic
rs780974681	p.Tyr247His	missense variant	-	NC_000012.12:g.42466230A>G	ExAC,gnomAD
RCV000704334	p.Ala248Val	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466226G>A	ClinVar
rs1214766355	p.Glu249Gln	missense variant	-	NC_000012.12:g.42466224C>G	TOPMed
rs1187409481	p.Glu249Asp	missense variant	-	NC_000012.12:g.42466222C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Glu249Gly	missense variant	-	NC_000012.12:g.42466223T>C	NCI-TCGA
NCI-TCGA novel	p.Cys251Ser	missense variant	-	NC_000012.12:g.42466217C>G	NCI-TCGA
rs779229187	p.Thr253Asn	missense variant	-	NC_000012.12:g.42466211G>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu256GlyPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.42466202_42466203insC	NCI-TCGA
rs755578011	p.His257Arg	missense variant	-	NC_000012.12:g.42466199T>C	ExAC,TOPMed,gnomAD
rs1555230194	p.Gly259Asp	missense variant	-	NC_000012.12:g.42465258C>T	-
RCV000553848	p.Gly259Asp	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465258C>T	ClinVar
rs1199665357	p.Val260Met	missense variant	-	NC_000012.12:g.42465256C>T	TOPMed,gnomAD
rs1478748901	p.His262Tyr	missense variant	-	NC_000012.12:g.42465250G>A	TOPMed
rs775135171	p.Ala263Thr	missense variant	-	NC_000012.12:g.42465247C>T	ExAC,TOPMed,gnomAD
rs1380187131	p.Thr266Ser	missense variant	-	NC_000012.12:g.42465238T>A	gnomAD
COSM939263	p.Asp268Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42465231T>C	NCI-TCGA Cosmic
rs376845777	p.Gly269Arg	missense variant	-	NC_000012.12:g.42465229C>T	ESP,ExAC,TOPMed,gnomAD
RCV000594518	p.Gln270Lys	missense variant	-	NC_000012.12:g.42465226G>T	ClinVar
rs752070986	p.Gln270Lys	missense variant	-	NC_000012.12:g.42465226G>T	ExAC,TOPMed,gnomAD
rs1462485485	p.Trp272Arg	missense variant	-	NC_000012.12:g.42465220A>G	gnomAD
rs762434475	p.Ala274Thr	missense variant	-	NC_000012.12:g.42465214C>T	ExAC,TOPMed,gnomAD
RCV000725886	p.Thr275Met	missense variant	-	NC_000012.12:g.42465210G>A	ClinVar
RCV000157058	p.Thr275Met	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465210G>A	ClinVar
rs559947948	p.Thr275Met	missense variant	-	NC_000012.12:g.42465210G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs559947948	p.Thr275Met	missense variant	-	NC_000012.12:g.42465210G>A	UniProt,dbSNP
VAR_066854	p.Thr275Met	missense variant	-	NC_000012.12:g.42465210G>A	UniProt
NCI-TCGA novel	p.Glu276Lys	missense variant	-	NC_000012.12:g.42465208C>T	NCI-TCGA
rs1418147287	p.Cys281Tyr	missense variant	-	NC_000012.12:g.42465192C>T	gnomAD
rs764805797	p.Cys284Arg	missense variant	-	NC_000012.12:g.42465184A>G	ExAC,gnomAD
rs759409673	p.Lys285Arg	missense variant	-	NC_000012.12:g.42465180T>C	ExAC,gnomAD
rs1555230175	p.Lys285Gln	missense variant	-	NC_000012.12:g.42465181T>G	-
RCV000792650	p.Lys285Gln	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465181T>G	ClinVar
RCV000519556	p.Lys285Gln	missense variant	-	NC_000012.12:g.42465181T>G	ClinVar
rs1361958779	p.Ala286Asp	missense variant	-	NC_000012.12:g.42465177G>T	TOPMed
RCV000720524	p.Ala286Val	missense variant	-	NC_000012.12:g.42465177G>A	ClinVar
rs1251610168	p.Ser287Thr	missense variant	-	NC_000012.12:g.42465175A>T	gnomAD
NCI-TCGA novel	p.Leu288ValPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.42465171_42465172AA>-	NCI-TCGA
NCI-TCGA novel	p.Pro292Leu	missense variant	-	NC_000012.12:g.42465159G>A	NCI-TCGA
NCI-TCGA novel	p.Leu294Phe	missense variant	-	NC_000012.12:g.42465154G>A	NCI-TCGA
NCI-TCGA novel	p.Pro295Ser	missense variant	-	NC_000012.12:g.42465151G>A	NCI-TCGA
rs770740860	p.Lys296Glu	missense variant	-	NC_000012.12:g.42465148T>C	ExAC,gnomAD
rs1335506558	p.Gln297Glu	missense variant	-	NC_000012.12:g.42465145G>C	gnomAD
NCI-TCGA novel	p.Gln299Ter	stop gained	-	NC_000012.12:g.42465139G>A	NCI-TCGA
NCI-TCGA novel	p.Gln299Lys	missense variant	-	NC_000012.12:g.42465139G>T	NCI-TCGA
rs202205425	p.Lys304Glu	missense variant	-	NC_000012.12:g.42465124T>C	-
RCV000188740	p.Lys304Glu	missense variant	-	NC_000012.12:g.42465124T>C	ClinVar
rs375459191	p.Thr305Met	missense variant	-	NC_000012.12:g.42465120G>A	ESP,ExAC,TOPMed,gnomAD
rs768917442	p.Cys306Tyr	missense variant	-	NC_000012.12:g.42465117C>T	ExAC,gnomAD
rs886043436	p.Ser307Asn	missense variant	-	NC_000012.12:g.42465114C>T	-
RCV000371660	p.Ser307Asn	missense variant	-	NC_000012.12:g.42465114C>T	ClinVar
rs1391694451	p.Leu308Phe	missense variant	-	NC_000012.12:g.42465112G>A	gnomAD
NCI-TCGA novel	p.Glu310Lys	missense variant	-	NC_000012.12:g.42465106C>T	NCI-TCGA
rs1245579936	p.Asp311Asn	missense variant	-	NC_000012.12:g.42465103C>T	TOPMed
rs1291662022	p.Asp311Glu	missense variant	-	NC_000012.12:g.42465101G>T	TOPMed,gnomAD
COSM4919301	p.Asp311His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42465103C>G	NCI-TCGA Cosmic
rs780452958	p.Val312Ile	missense variant	-	NC_000012.12:g.42465100C>T	ExAC,gnomAD
rs932674648	p.His313Arg	missense variant	-	NC_000012.12:g.42465096T>C	TOPMed,gnomAD
rs932674648	p.His313Pro	missense variant	-	NC_000012.12:g.42465096T>G	TOPMed,gnomAD
COSM3460671	p.Ala314Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42465093G>A	NCI-TCGA Cosmic
rs769860194	p.Ser315Cys	missense variant	-	NC_000012.12:g.42465090G>C	ExAC,gnomAD
rs1203241244	p.Ser318Pro	missense variant	-	NC_000012.12:g.42465082A>G	TOPMed
rs1410763509	p.Phe322Ser	missense variant	-	NC_000012.12:g.42465069A>G	gnomAD
NCI-TCGA novel	p.Ser324Leu	missense variant	-	NC_000012.12:g.42465063G>A	NCI-TCGA
rs757632765	p.Ala325Pro	missense variant	-	NC_000012.12:g.42465061C>G	ExAC,gnomAD
rs752116352	p.Arg326Gln	missense variant	-	NC_000012.12:g.42465057C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser327Ter	stop gained	-	NC_000012.12:g.42465054G>C	NCI-TCGA
rs1046367995	p.Asp329Gly	missense variant	-	NC_000012.12:g.42465048T>C	-
rs778192552	p.Arg331Gln	missense variant	-	NC_000012.12:g.42465042C>T	ExAC,TOPMed,gnomAD
RCV000462752	p.Arg331Gln	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465042C>T	ClinVar
rs757911190	p.Arg335Gln	missense variant	-	NC_000012.12:g.42465030C>T	ExAC,TOPMed,gnomAD
RCV000531254	p.Arg335Gln	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465030C>T	ClinVar
rs76029235	p.Met336Thr	missense variant	-	NC_000012.12:g.42465027A>G	ExAC,gnomAD
rs76029235	p.Met336Arg	missense variant	-	NC_000012.12:g.42465027A>C	ExAC,gnomAD
rs1328763941	p.Lys338Glu	missense variant	-	NC_000012.12:g.42465022T>C	gnomAD
rs764895755	p.Ser339Asn	missense variant	-	NC_000012.12:g.42465018C>T	ExAC,TOPMed,gnomAD
rs759164554	p.Arg341Trp	missense variant	-	NC_000012.12:g.42465013G>A	ExAC,TOPMed,gnomAD
rs577174749	p.Arg341Gln	missense variant	-	NC_000012.12:g.42465012C>T	1000Genomes,ExAC,gnomAD
rs773297758	p.Ser342Ala	missense variant	-	NC_000012.12:g.42465010A>C	ExAC,gnomAD
rs1395109384	p.Asp344Glu	missense variant	-	NC_000012.12:g.42465002A>C	gnomAD
rs1397193014	p.Gln345Arg	missense variant	-	NC_000012.12:g.42465000T>C	TOPMed
rs772094351	p.Cys346Arg	missense variant	-	NC_000012.12:g.42464998A>G	ExAC,gnomAD
rs1455123053	p.Ser349Pro	missense variant	-	NC_000012.12:g.42464989A>G	TOPMed,gnomAD
rs1454994864	p.Ser353Leu	missense variant	-	NC_000012.12:g.42464976G>A	TOPMed,gnomAD
rs775761309	p.Ser353Pro	missense variant	-	NC_000012.12:g.42464977A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu356Gln	missense variant	-	NC_000012.12:g.42464967A>T	NCI-TCGA
rs886049376	p.Tyr358Asp	missense variant	-	NC_000012.12:g.42464962A>C	-
RCV000397049	p.Tyr358Asp	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464962A>C	ClinVar
NCI-TCGA novel	p.Lys359Arg	missense variant	-	NC_000012.12:g.42464958T>C	NCI-TCGA
rs1236954949	p.Lys359Asn	missense variant	-	NC_000012.12:g.42464957C>G	TOPMed
rs1198581280	p.Pro361Ala	missense variant	-	NC_000012.12:g.42464953G>C	gnomAD
rs1198581280	p.Pro361Ser	missense variant	-	NC_000012.12:g.42464953G>A	gnomAD
rs1260285480	p.Leu363Phe	missense variant	-	NC_000012.12:g.42464947G>A	TOPMed
NCI-TCGA novel	p.Ser364Leu	missense variant	-	NC_000012.12:g.42464943G>A	NCI-TCGA
rs771210638	p.Asn366Ser	missense variant	-	NC_000012.12:g.42464937T>C	ExAC,TOPMed,gnomAD
rs747305137	p.Asp368Gly	missense variant	-	NC_000012.12:g.42464931T>C	ExAC,gnomAD
COSM4041790	p.Asp369Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42464929C>T	NCI-TCGA Cosmic
rs778286825	p.Thr370Asn	missense variant	-	NC_000012.12:g.42464925G>T	ExAC,TOPMed,gnomAD
rs1343106235	p.Leu371Val	missense variant	-	NC_000012.12:g.42464923G>C	gnomAD
COSM3416836	p.Ser372Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42464919G>T	NCI-TCGA Cosmic
rs1254082305	p.Arg373Gln	missense variant	-	NC_000012.12:g.42464916C>T	gnomAD
COSM693113	p.Arg373Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42464916C>A	NCI-TCGA Cosmic
RCV000720603	p.Arg373Gln	missense variant	-	NC_000012.12:g.42464916C>T	ClinVar
COSM4041789	p.Lys374Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42464913T>C	NCI-TCGA Cosmic
rs1239638305	p.Leu375Ser	missense variant	-	NC_000012.12:g.42464910A>G	TOPMed
rs1259483653	p.Asp376Gly	missense variant	-	NC_000012.12:g.42464907T>C	gnomAD
rs977985870	p.Leu378Met	missense variant	-	NC_000012.12:g.42464902G>T	TOPMed
rs758856895	p.Ser379Cys	missense variant	-	NC_000012.12:g.42464899T>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser379Asn	missense variant	-	NC_000012.12:g.42464898C>T	NCI-TCGA
RCV000800273	p.Arg382Lys	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464889C>T	ClinVar
RCV000712844	p.Arg382Lys	missense variant	-	NC_000012.12:g.42464889C>T	ClinVar
rs778330311	p.Arg382Ser	missense variant	-	NC_000012.12:g.42464888T>G	ExAC,gnomAD
rs748636455	p.Arg382Lys	missense variant	-	NC_000012.12:g.42464889C>T	ExAC,TOPMed,gnomAD
RCV000188741	p.Arg382Lys	missense variant	-	NC_000012.12:g.42464889C>T	ClinVar
rs754507423	p.Ser386Cys	missense variant	-	NC_000012.12:g.42464878T>A	ExAC,gnomAD
rs1466958238	p.Ser389Gly	missense variant	-	NC_000012.12:g.42464869T>C	TOPMed
rs1179243084	p.Glu390Lys	missense variant	-	NC_000012.12:g.42464866C>T	TOPMed
NCI-TCGA novel	p.Glu391Ter	stop gained	-	NC_000012.12:g.42464863C>A	NCI-TCGA
NCI-TCGA novel	p.Gly395Ser	missense variant	-	NC_000012.12:g.42464851C>T	NCI-TCGA
rs796052931	p.Glu400Gln	missense variant	-	NC_000012.12:g.42464836C>G	TOPMed,gnomAD
RCV000188742	p.Glu400Gln	missense variant	-	NC_000012.12:g.42464836C>G	ClinVar
rs766000495	p.Thr401Ile	missense variant	-	NC_000012.12:g.42464832G>A	ExAC,gnomAD
rs755979431	p.Pro402Leu	missense variant	-	NC_000012.12:g.42464829G>A	ExAC,gnomAD
rs367941464	p.Glu403Gly	missense variant	-	NC_000012.12:g.42464826T>C	ExAC,gnomAD
rs376384105	p.Trp408Arg	missense variant	-	NC_000012.12:g.42464812A>G	ESP,ExAC,TOPMed,gnomAD
RCV000698134	p.Trp408Arg	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464812A>G	ClinVar
RCV000720205	p.Trp408Arg	missense variant	-	NC_000012.12:g.42464812A>G	ClinVar
RCV000731193	p.Trp408Arg	missense variant	-	NC_000012.12:g.42464812A>G	ClinVar
rs376384105	p.Trp408Gly	missense variant	-	NC_000012.12:g.42464812A>C	ESP,ExAC,TOPMed,gnomAD
rs774422189	p.Ala409Thr	missense variant	-	NC_000012.12:g.42464809C>T	ExAC,TOPMed,gnomAD
RCV000339156	p.Ala409Thr	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464809C>T	ClinVar
rs1389927918	p.His411Asp	missense variant	-	NC_000012.12:g.42464803G>C	TOPMed
rs1449357649	p.His411Arg	missense variant	-	NC_000012.12:g.42464802T>C	gnomAD
NCI-TCGA novel	p.His411Tyr	missense variant	-	NC_000012.12:g.42464803G>A	NCI-TCGA
rs765287368	p.Glu412Lys	missense variant	-	NC_000012.12:g.42464800C>T	ExAC,gnomAD
rs759600108	p.Asp413Val	missense variant	-	NC_000012.12:g.42464796T>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp413Tyr	missense variant	-	NC_000012.12:g.42464797C>A	NCI-TCGA
rs776720321	p.Met415Val	missense variant	-	NC_000012.12:g.42464791T>C	ExAC,TOPMed,gnomAD
RCV000479983	p.Met415Val	missense variant	-	NC_000012.12:g.42464791T>C	ClinVar
RCV000720427	p.Met415Val	missense variant	-	NC_000012.12:g.42464791T>C	ClinVar
rs151332996	p.Thr416Met	missense variant	-	NC_000012.12:g.42464787G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000545733	p.Thr416Met	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464787G>A	ClinVar
rs1348264193	p.Leu418His	missense variant	-	NC_000012.12:g.42464781A>T	gnomAD
rs1261183051	p.Leu419Phe	missense variant	-	NC_000012.12:g.42464779G>A	TOPMed
rs773620209	p.Gly423Cys	missense variant	-	NC_000012.12:g.42464767C>A	ExAC,gnomAD
rs371689139	p.Gly423Ala	missense variant	-	NC_000012.12:g.42464766C>G	ESP,TOPMed
COSM693114	p.Gly423Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42464767C>G	NCI-TCGA Cosmic
rs371689139	p.Gly423Asp	missense variant	-	NC_000012.12:g.42464766C>T	ESP,TOPMed
rs1199026839	p.Ser426Gly	missense variant	-	NC_000012.12:g.42464758T>C	TOPMed
rs553919252	p.Leu427Phe	missense variant	-	NC_000012.12:g.42464755G>A	1000Genomes,ExAC,gnomAD
rs553919252	p.Leu427Val	missense variant	-	NC_000012.12:g.42464755G>C	1000Genomes,ExAC,gnomAD
rs779462876	p.Phe428Leu	missense variant	-	NC_000012.12:g.42464752A>G	ExAC,gnomAD
rs1311851345	p.Pro430Ser	missense variant	-	NC_000012.12:g.42464746G>A	gnomAD
rs748766846	p.Asn433Ser	missense variant	-	NC_000012.12:g.42464736T>C	ExAC,TOPMed
rs779594296	p.Asn433Lys	missense variant	-	NC_000012.12:g.42464735A>C	ExAC
rs779594296	p.Asn433Lys	missense variant	-	NC_000012.12:g.42464735A>T	ExAC
RCV000457443	p.Asn433Lys	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464735A>C	ClinVar
NCI-TCGA novel	p.Asp436His	missense variant	-	NC_000012.12:g.42464728C>G	NCI-TCGA
rs755877569	p.Ile437Phe	missense variant	-	NC_000012.12:g.42464725T>A	ExAC,gnomAD
rs750068527	p.Arg438Gly	missense variant	-	NC_000012.12:g.42464722G>C	ExAC,gnomAD
rs1306531699	p.Arg438Gln	missense variant	-	NC_000012.12:g.42464721C>T	gnomAD
rs1409951498	p.Ala439Thr	missense variant	-	NC_000012.12:g.42464719C>T	gnomAD
RCV000733425	p.Ser440Gly	missense variant	-	NC_000012.12:g.42464716T>C	ClinVar
rs1420840004	p.His442Tyr	missense variant	-	NC_000012.12:g.42464710G>A	gnomAD
rs767486612	p.Trp443Arg	missense variant	-	NC_000012.12:g.42464707A>G	ExAC,TOPMed,gnomAD
rs146199468	p.Ile444Leu	missense variant	-	NC_000012.12:g.42464704T>G	ESP,ExAC,TOPMed,gnomAD
rs751460514	p.Ser445Thr	missense variant	-	NC_000012.12:g.42464701A>T	ExAC,gnomAD
rs764022861	p.Asp446His	missense variant	-	NC_000012.12:g.42464698C>G	ExAC,gnomAD
rs776727562	p.Met448Leu	missense variant	-	NC_000012.12:g.42464692T>A	ExAC,gnomAD
NCI-TCGA novel	p.Met448Ile	missense variant	-	NC_000012.12:g.42464690C>A	NCI-TCGA
rs1295639236	p.Met448Thr	missense variant	-	NC_000012.12:g.42464691A>G	TOPMed,gnomAD
rs766349772	p.Val449Phe	missense variant	-	NC_000012.12:g.42464689C>A	ExAC,TOPMed,gnomAD
rs1273563696	p.Lys450Glu	missense variant	-	NC_000012.12:g.42464686T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ser451Asn	missense variant	-	NC_000012.12:g.42464682C>T	NCI-TCGA
NCI-TCGA novel	p.Ser451Arg	missense variant	-	NC_000012.12:g.42464681A>T	NCI-TCGA
rs773422113	p.Thr453Ile	missense variant	-	NC_000012.12:g.42464676G>A	ExAC,TOPMed,gnomAD
rs773422113	p.Thr453Asn	missense variant	-	NC_000012.12:g.42464676G>T	ExAC,TOPMed,gnomAD
rs748454609	p.Glu454Lys	missense variant	-	NC_000012.12:g.42464674C>T	ExAC,TOPMed,gnomAD
RCV000560400	p.Glu454Lys	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464674C>T	ClinVar
RCV000188744	p.Glu454Lys	missense variant	-	NC_000012.12:g.42464674C>T	ClinVar
rs774727935	p.Leu455Ser	missense variant	-	NC_000012.12:g.42464670A>G	ExAC,gnomAD
rs769168031	p.Asn458Asp	missense variant	-	NC_000012.12:g.42464662T>C	ExAC,gnomAD
rs138568653	p.Ser464Asn	missense variant	-	NC_000012.12:g.42464643C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs769424445	p.Ser464Arg	missense variant	-	NC_000012.12:g.42464644T>G	ExAC,gnomAD
rs780931107	p.Lys465Glu	missense variant	-	NC_000012.12:g.42464641T>C	ExAC,gnomAD
rs556311726	p.Gln468Arg	missense variant	-	NC_000012.12:g.42464631T>C	1000Genomes,ExAC,gnomAD
rs751326939	p.Ser469Cys	missense variant	-	NC_000012.12:g.42464628G>C	ExAC,TOPMed,gnomAD
rs777597253	p.Met471Thr	missense variant	-	NC_000012.12:g.42464622A>G	ExAC,TOPMed,gnomAD
rs1060502985	p.MetTyr471IleHis	missense variant	-	NC_000012.12:g.42464620_42464621delinsGA	-
RCV000461836	p.Met471IleHis	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464620_42464621delinsGA	ClinVar
RCV000023708	p.Tyr472His	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464620A>G	ClinVar
rs281865564	p.Tyr472His	missense variant	-	NC_000012.12:g.42464620A>G	-
rs281865564	p.Tyr472His	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42464620A>G	UniProt,dbSNP
VAR_065581	p.Tyr472His	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42464620A>G	UniProt
rs538066196	p.Trp473Arg	missense variant	-	NC_000012.12:g.42464617A>T	1000Genomes
rs570770626	p.Gly479Arg	missense variant	-	NC_000012.12:g.42464599C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000475911	p.Gly479Arg	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464599C>T	ClinVar
RCV000180007	p.Gly479Arg	missense variant	-	NC_000012.12:g.42464599C>T	ClinVar
NCI-TCGA novel	p.Gly479Glu	missense variant	-	NC_000012.12:g.42464598C>T	NCI-TCGA
rs552840971	p.Leu480Val	missense variant	-	NC_000012.12:g.42464596G>C	1000Genomes,ExAC,gnomAD
rs1555229983	p.Asp482Asn	missense variant	-	NC_000012.12:g.42464590C>T	-
RCV000519106	p.Asp482Asn	missense variant	-	NC_000012.12:g.42464590C>T	ClinVar
rs1041081826	p.Ser483Phe	missense variant	-	NC_000012.12:g.42464586G>A	TOPMed,gnomAD
COSM258618	p.Ala484Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42464583G>A	NCI-TCGA Cosmic
rs116197349	p.Ser487Arg	missense variant	-	NC_000012.12:g.42464573G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs547914367	p.Ser493Arg	missense variant	-	NC_000012.12:g.42464557T>G	1000Genomes,ExAC,gnomAD
rs762118167	p.Arg496Ser	missense variant	-	NC_000012.12:g.42464546C>G	ExAC,gnomAD
rs1374457822	p.Leu497Arg	missense variant	-	NC_000012.12:g.42464544A>C	gnomAD
rs768870075	p.Leu502Arg	missense variant	-	NC_000012.12:g.42464529A>C	ExAC,gnomAD
rs1203294388	p.Leu502Met	missense variant	-	NC_000012.12:g.42464530G>T	TOPMed
rs201054946	p.His504Arg	missense variant	-	NC_000012.12:g.42464523T>C	1000Genomes,ESP,ExAC,gnomAD
COSM284240	p.His504Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42464524G>T	NCI-TCGA Cosmic
rs745306755	p.Ala506Val	missense variant	-	NC_000012.12:g.42464517G>A	ExAC,gnomAD
rs796052932	p.Ala506Thr	missense variant	-	NC_000012.12:g.42464518C>T	TOPMed
RCV000188746	p.Ala506Thr	missense variant	-	NC_000012.12:g.42464518C>T	ClinVar
rs781019264	p.Ser507Leu	missense variant	-	NC_000012.12:g.42464514G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His511Tyr	missense variant	-	NC_000012.12:g.42464503G>A	NCI-TCGA
rs374333566	p.Thr514Ile	missense variant	-	NC_000012.12:g.42464493G>A	ESP,ExAC,TOPMed,gnomAD
COSM3986912	p.Gln515Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.42464491G>A	NCI-TCGA Cosmic
rs1178710587	p.Trp516Gly	missense variant	-	NC_000012.12:g.42464488A>C	gnomAD
RCV000467028	p.Trp516Ser	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464487C>G	ClinVar
RCV000188747	p.Trp516Ser	missense variant	-	NC_000012.12:g.42464487C>G	ClinVar
RCV000717833	p.Trp516Ser	missense variant	-	NC_000012.12:g.42464487C>G	ClinVar
rs139901494	p.Trp516Ser	missense variant	-	NC_000012.12:g.42464487C>G	ESP,ExAC,TOPMed,gnomAD
rs777667268	p.Ser520Phe	missense variant	-	NC_000012.12:g.42464475G>A	ExAC,gnomAD
rs777667268	p.Ser520Cys	missense variant	-	NC_000012.12:g.42464475G>C	ExAC,gnomAD
COSM4929784	p.Leu521Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42464473G>C	NCI-TCGA Cosmic
rs150121787	p.Cys523Arg	missense variant	-	NC_000012.12:g.42464467A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1265886356	p.Cys523Tyr	missense variant	-	NC_000012.12:g.42464466C>T	TOPMed,gnomAD
rs1472183837	p.Leu527Gln	missense variant	-	NC_000012.12:g.42464454A>T	TOPMed,gnomAD
COSM4041786	p.Leu527Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42464454A>C	NCI-TCGA Cosmic
rs778765052	p.Ser532Asn	missense variant	-	NC_000012.12:g.42464439C>T	ExAC,gnomAD
rs936545109	p.Arg534Trp	missense variant	-	NC_000012.12:g.42464434G>A	TOPMed,gnomAD
rs936545109	p.Arg534Gly	missense variant	-	NC_000012.12:g.42464434G>C	TOPMed,gnomAD
rs756192425	p.Arg534Gln	missense variant	-	NC_000012.12:g.42464433C>T	ExAC,TOPMed,gnomAD
RCV000544669	p.Arg534Trp	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464434G>A	ClinVar
RCV000692133	p.Arg534Gln	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464433C>T	ClinVar
RCV000724353	p.Arg534Gln	missense variant	-	NC_000012.12:g.42464433C>T	ClinVar
RCV000281320	p.Arg534Gln	missense variant	-	NC_000012.12:g.42464433C>T	ClinVar
NCI-TCGA novel	p.Asp535Tyr	missense variant	-	NC_000012.12:g.42464431C>A	NCI-TCGA
rs371146879	p.Asp535His	missense variant	-	NC_000012.12:g.42464431C>G	gnomAD
RCV000560200	p.Ser536Leu	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464427G>A	ClinVar
rs150766064	p.Ser536Leu	missense variant	-	NC_000012.12:g.42464427G>A	ExAC,gnomAD
rs1437950772	p.Met537Val	missense variant	-	NC_000012.12:g.42464425T>C	TOPMed,gnomAD
RCV000696604	p.Met537Val	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464425T>C	ClinVar
rs764577468	p.Asp538Ala	missense variant	-	NC_000012.12:g.42464421T>G	ExAC,TOPMed,gnomAD
rs751724595	p.Asp538Tyr	missense variant	-	NC_000012.12:g.42464422C>A	ExAC,TOPMed,gnomAD
rs1431820148	p.Ser539Pro	missense variant	-	NC_000012.12:g.42464419A>G	gnomAD
rs1290563630	p.Leu540Ser	missense variant	-	NC_000012.12:g.42464415A>G	TOPMed
rs763169354	p.Ala541Ser	missense variant	-	NC_000012.12:g.42464413C>A	ExAC,TOPMed,gnomAD
rs763169354	p.Ala541Thr	missense variant	-	NC_000012.12:g.42464413C>T	ExAC,TOPMed,gnomAD
RCV000533960	p.Ala541Ser	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464413C>A	ClinVar
rs1394426027	p.Asn544His	missense variant	-	NC_000012.12:g.42464404T>G	gnomAD
rs1361111517	p.Asn544Ser	missense variant	-	NC_000012.12:g.42464403T>C	TOPMed
rs1428542328	p.Gly547Glu	missense variant	-	NC_000012.12:g.42460665C>T	gnomAD
rs1185406959	p.Ala548Thr	missense variant	-	NC_000012.12:g.42460663C>T	gnomAD
rs370892022	p.Ser549Leu	missense variant	-	NC_000012.12:g.42460659G>A	ESP,ExAC,TOPMed,gnomAD
rs760050261	p.Val550Met	missense variant	-	NC_000012.12:g.42460657C>T	ExAC,TOPMed,gnomAD
RCV000646039	p.Val550Met	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460657C>T	ClinVar
rs1055556905	p.Gly552Glu	missense variant	-	NC_000012.12:g.42460650C>T	TOPMed
RCV000559131	p.Gly552Glu	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460650C>T	ClinVar
rs1251183992	p.Asn554Asp	missense variant	-	NC_000012.12:g.42460645T>C	gnomAD
COSM4041785	p.Pro558Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460633G>A	NCI-TCGA Cosmic
RCV000278259	p.Ser559Leu	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460629G>A	ClinVar
rs771584708	p.Ser559Leu	missense variant	-	NC_000012.12:g.42460629G>A	ExAC,TOPMed,gnomAD
RCV000188748	p.Ser559Leu	missense variant	-	NC_000012.12:g.42460629G>A	ClinVar
rs1310624941	p.Leu560Phe	missense variant	-	NC_000012.12:g.42460625C>G	gnomAD
rs1232951000	p.Tyr561His	missense variant	-	NC_000012.12:g.42460624A>G	TOPMed,gnomAD
rs1314620146	p.Ser562Cys	missense variant	-	NC_000012.12:g.42460620G>C	TOPMed
COSM1361557	p.Ser562Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460620G>T	NCI-TCGA Cosmic
rs1002543932	p.Leu563Pro	missense variant	-	NC_000012.12:g.42460617A>G	TOPMed
NCI-TCGA novel	p.Gln564Lys	missense variant	-	NC_000012.12:g.42460615G>T	NCI-TCGA
rs747960166	p.Asn565Lys	missense variant	-	NC_000012.12:g.42460610A>C	ExAC,gnomAD
COSM3460669	p.Glu568Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460603C>T	NCI-TCGA Cosmic
rs192905881	p.Thr571Ile	missense variant	-	NC_000012.12:g.42460593G>A	1000Genomes
rs774182139	p.Thr571Ala	missense variant	-	NC_000012.12:g.42460594T>C	ExAC,gnomAD
rs1337094297	p.Asn579Ser	missense variant	-	NC_000012.12:g.42460569T>C	TOPMed
rs1236470134	p.Met580Thr	missense variant	-	NC_000012.12:g.42460566A>G	TOPMed
NCI-TCGA novel	p.Ser586Tyr	missense variant	-	NC_000012.12:g.42460548G>T	NCI-TCGA
rs1462408455	p.Met587Val	missense variant	-	NC_000012.12:g.42460546T>C	gnomAD
rs1345086413	p.Leu588Val	missense variant	-	NC_000012.12:g.42460543G>C	TOPMed
NCI-TCGA novel	p.Leu588Met	missense variant	-	NC_000012.12:g.42460543G>T	NCI-TCGA
rs1355828220	p.His589Gln	missense variant	-	NC_000012.12:g.42460538G>C	gnomAD
rs747016163	p.Arg590Lys	missense variant	-	NC_000012.12:g.42460536C>T	ExAC,gnomAD
rs757362404	p.Arg590Gly	missense variant	-	NC_000012.12:g.42460537T>C	ExAC,gnomAD
COSM1361556	p.Arg590Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460536C>A	NCI-TCGA Cosmic
COSM1361555	p.Arg590Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460535C>A	NCI-TCGA Cosmic
COSM3688199	p.Ser591Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460534T>A	NCI-TCGA Cosmic
rs778075325	p.Ser591Thr	missense variant	-	NC_000012.12:g.42460533C>G	ExAC,TOPMed,gnomAD
rs890912439	p.Glu593Asp	missense variant	-	NC_000012.12:g.42460526C>A	TOPMed
NCI-TCGA novel	p.Glu593Gly	missense variant	-	NC_000012.12:g.42460527T>C	NCI-TCGA
rs758594837	p.Ser594Tyr	missense variant	-	NC_000012.12:g.42460524G>T	ExAC,gnomAD
rs752938677	p.Lys596Glu	missense variant	-	NC_000012.12:g.42460519T>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys596Asn	missense variant	-	NC_000012.12:g.42460517C>A	NCI-TCGA
rs765766362	p.Ser597Arg	missense variant	-	NC_000012.12:g.42460514A>C	ExAC,gnomAD
rs1051937466	p.Ser600Leu	missense variant	-	NC_000012.12:g.42460506G>A	gnomAD
rs368664984	p.Leu602Val	missense variant	-	NC_000012.12:g.42460501A>C	ESP,ExAC,TOPMed,gnomAD
rs1271412192	p.Glu605Lys	missense variant	-	NC_000012.12:g.42460492C>T	TOPMed,gnomAD
rs754414301	p.Lys606Thr	missense variant	-	NC_000012.12:g.42460488T>G	ExAC,gnomAD
rs766728682	p.Ile607Phe	missense variant	-	NC_000012.12:g.42460486T>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro609LeuPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.42460481C>-	NCI-TCGA
COSM3812000	p.Glu610Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.42460477C>A	NCI-TCGA Cosmic
rs749854195	p.Glu611Asp	missense variant	-	NC_000012.12:g.42460472C>G	ExAC,TOPMed,gnomAD
rs1333808702	p.Glu611Lys	missense variant	-	NC_000012.12:g.42460474C>T	gnomAD
COSM4041784	p.Pro613Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460468G>A	NCI-TCGA Cosmic
rs767033548	p.His615Gln	missense variant	-	NC_000012.12:g.42460460A>T	ExAC,TOPMed,gnomAD
rs761518408	p.Leu619Pro	missense variant	-	NC_000012.12:g.42460449A>G	ExAC,gnomAD
rs1460411446	p.Arg620Thr	missense variant	-	NC_000012.12:g.42460446C>G	gnomAD
rs1394787819	p.Arg621Lys	missense variant	-	NC_000012.12:g.42460443C>T	gnomAD
rs773978081	p.Ser622Pro	missense variant	-	NC_000012.12:g.42460441A>G	ExAC,gnomAD
rs768451748	p.Ser622Tyr	missense variant	-	NC_000012.12:g.42460440G>T	ExAC,gnomAD
rs762668703	p.Lys623Glu	missense variant	-	NC_000012.12:g.42460438T>C	ExAC,gnomAD
rs150809651	p.Lys623Asn	missense variant	-	NC_000012.12:g.42460436C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200171609	p.Gln630Glu	missense variant	-	NC_000012.12:g.42460417G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000375035	p.Gln630Glu	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460417G>C	ClinVar
RCV000188754	p.Gln630Glu	missense variant	-	NC_000012.12:g.42460417G>C	ClinVar
rs1203666124	p.Asp635Asn	missense variant	-	NC_000012.12:g.42460402C>T	gnomAD
rs1389513502	p.Ile638Thr	missense variant	-	NC_000012.12:g.42460392A>G	TOPMed
rs139937830	p.Asn640Ser	missense variant	-	NC_000012.12:g.42460386T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs374621616	p.Gly641Glu	missense variant	-	NC_000012.12:g.42460383C>T	ESP,ExAC,TOPMed,gnomAD
rs374621616	p.Gly641Ala	missense variant	-	NC_000012.12:g.42460383C>G	ESP,ExAC,TOPMed,gnomAD
RCV000327055	p.Gly641Glu	missense variant	-	NC_000012.12:g.42460383C>T	ClinVar
rs1346255030	p.Tyr643Asp	missense variant	-	NC_000012.12:g.42460378A>C	TOPMed
NCI-TCGA novel	p.Asp644Gly	missense variant	-	NC_000012.12:g.42460374T>C	NCI-TCGA
rs780633961	p.Ile645Val	missense variant	-	NC_000012.12:g.42460372T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu646Lys	missense variant	-	NC_000012.12:g.42460369C>T	NCI-TCGA
rs370129051	p.Arg648Gly	missense variant	-	NC_000012.12:g.42460363G>C	ESP,ExAC,TOPMed,gnomAD
rs370129051	p.Arg648Trp	missense variant	-	NC_000012.12:g.42460363G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln649Leu	missense variant	-	NC_000012.12:g.42460359T>A	NCI-TCGA
rs750913400	p.Pro651Leu	missense variant	-	NC_000012.12:g.42460353G>A	ExAC,gnomAD
rs1439559141	p.Pro651Ala	missense variant	-	NC_000012.12:g.42460354G>C	gnomAD
rs1194478107	p.Met652Val	missense variant	-	NC_000012.12:g.42460351T>C	TOPMed
rs1555229356	p.Glu654Lys	missense variant	-	NC_000012.12:g.42460345C>T	-
RCV000658028	p.Glu654Lys	missense variant	-	NC_000012.12:g.42460345C>T	ClinVar
rs557639324	p.Arg655Gly	missense variant	-	NC_000012.12:g.42460342T>C	1000Genomes,ExAC,gnomAD
rs1383784474	p.Thr656Ile	missense variant	-	NC_000012.12:g.42460338G>A	gnomAD
rs751217827	p.Arg657Gly	missense variant	-	NC_000012.12:g.42460336G>C	ExAC,gnomAD
COSM4150084	p.Arg657Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460336G>A	NCI-TCGA Cosmic
COSM693115	p.Arg657Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460335C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg659His	missense variant	-	NC_000012.12:g.42460329C>T	NCI-TCGA
rs376257338	p.Arg659Cys	missense variant	-	NC_000012.12:g.42460330G>A	ESP,ExAC,gnomAD
rs143947284	p.Val660Ile	missense variant	-	NC_000012.12:g.42460327C>T	1000Genomes,ExAC,gnomAD
rs775196409	p.Tyr661Ser	missense variant	-	NC_000012.12:g.42460323T>G	ExAC,gnomAD
rs769599129	p.Asn662Ser	missense variant	-	NC_000012.12:g.42460320T>C	ExAC,TOPMed,gnomAD
RCV000188729	p.Asn662Ser	missense variant	-	NC_000012.12:g.42460320T>C	ClinVar
COSM415865	p.Glu665Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.42460312C>A	NCI-TCGA Cosmic
rs370547490	p.Arg666Lys	missense variant	-	NC_000012.12:g.42460308C>T	ESP
rs794727934	p.Ser668Thr	missense variant	-	NC_000012.12:g.42460303A>T	TOPMed
RCV000180379	p.Ser668Thr	missense variant	-	NC_000012.12:g.42460303A>T	ClinVar
rs776619006	p.His671Asn	missense variant	-	NC_000012.12:g.42460294G>T	ExAC,gnomAD
rs776619006	p.His671Tyr	missense variant	-	NC_000012.12:g.42460294G>A	ExAC,gnomAD
rs1555229335	p.His671Leu	missense variant	-	NC_000012.12:g.42460293T>A	-
NCI-TCGA novel	p.His671Asp	missense variant	-	NC_000012.12:g.42460294G>C	NCI-TCGA
RCV000646043	p.His671Leu	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460293T>A	ClinVar
rs748173327	p.Arg674His	missense variant	-	NC_000012.12:g.42460284C>T	ExAC,TOPMed,gnomAD
rs572205675	p.Arg674Cys	missense variant	-	NC_000012.12:g.42460285G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs748173327	p.Arg674Pro	missense variant	-	NC_000012.12:g.42460284C>G	ExAC,TOPMed,gnomAD
rs1233536174	p.Arg675His	missense variant	-	NC_000012.12:g.42460281C>T	TOPMed,gnomAD
rs1233536174	p.Arg675Leu	missense variant	-	NC_000012.12:g.42460281C>A	TOPMed,gnomAD
rs779314205	p.Arg676Trp	missense variant	-	NC_000012.12:g.42460279G>A	ExAC,gnomAD
rs377294908	p.Arg676Leu	missense variant	-	NC_000012.12:g.42460278C>A	ESP,TOPMed,gnomAD
RCV000408271	p.Arg676Gln	missense variant	-	NC_000012.12:g.42460278C>T	ClinVar
rs377294908	p.Arg676Gln	missense variant	-	NC_000012.12:g.42460278C>T	ESP,TOPMed,gnomAD
COSM939260	p.Arg677Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460275C>A	NCI-TCGA Cosmic
rs1469487017	p.Arg677Lys	missense variant	-	NC_000012.12:g.42460275C>T	gnomAD
rs1057520141	p.Arg679Ser	missense variant	-	NC_000012.12:g.42460268T>G	TOPMed,gnomAD
RCV000433520	p.Arg679Ser	missense variant	-	NC_000012.12:g.42460268T>G	ClinVar
rs1325512194	p.Lys680Glu	missense variant	-	NC_000012.12:g.42460267T>C	gnomAD
rs768954477	p.Arg682Cys	missense variant	-	NC_000012.12:g.42460261G>A	ExAC,TOPMed,gnomAD
rs768954477	p.Arg682Cys	missense variant	-	NC_000012.12:g.42460261G>A	UniProt,dbSNP
VAR_066855	p.Arg682Cys	missense variant	-	NC_000012.12:g.42460261G>A	UniProt
rs189093086	p.Arg682His	missense variant	-	NC_000012.12:g.42460260C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser683Phe	missense variant	-	NC_000012.12:g.42460257G>A	NCI-TCGA
rs1214661052	p.Asn685Ser	missense variant	-	NC_000012.12:g.42460251T>C	TOPMed,gnomAD
rs1374079074	p.Asn685Asp	missense variant	-	NC_000012.12:g.42460252T>C	TOPMed,gnomAD
rs1312641761	p.Ala686Thr	missense variant	-	NC_000012.12:g.42460249C>T	gnomAD
COSM284239	p.Leu689Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460240G>T	NCI-TCGA Cosmic
RCV000186656	p.Thr691Ala	missense variant	-	NC_000012.12:g.42460234T>C	ClinVar
rs149496604	p.Thr691Ala	missense variant	-	NC_000012.12:g.42460234T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg693Lys	missense variant	-	NC_000012.12:g.42460227C>T	NCI-TCGA
rs750904030	p.Lys694Arg	missense variant	-	NC_000012.12:g.42460224T>C	ExAC,TOPMed,gnomAD
rs1373885694	p.Ser696Ala	missense variant	-	NC_000012.12:g.42460219A>C	gnomAD
rs781672373	p.Pro697Ser	missense variant	-	NC_000012.12:g.42460216G>A	ExAC,gnomAD
RCV000646045	p.Pro697Ser	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460216G>A	ClinVar
rs1255209046	p.Lys698Arg	missense variant	-	NC_000012.12:g.42460212T>C	gnomAD
NCI-TCGA novel	p.Lys698Asn	missense variant	-	NC_000012.12:g.42460211C>A	NCI-TCGA
rs1555229289	p.Asp699Glu	missense variant	-	NC_000012.12:g.42460208G>T	-
RCV000547364	p.Asp699Glu	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460208G>T	ClinVar
rs369790443	p.Arg702Gln	missense variant	-	NC_000012.12:g.42460200C>T	ESP,ExAC,TOPMed,gnomAD
RCV000724229	p.Arg702Gln	missense variant	-	NC_000012.12:g.42460200C>T	ClinVar
RCV000796891	p.Arg702Gln	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460200C>T	ClinVar
RCV000188749	p.Arg702Gln	missense variant	-	NC_000012.12:g.42460200C>T	ClinVar
rs751021008	p.Arg702Trp	missense variant	-	NC_000012.12:g.42460201G>A	ExAC,TOPMed,gnomAD
rs758085094	p.Leu703Pro	missense variant	-	NC_000012.12:g.42460197A>G	ExAC,gnomAD
rs752387857	p.Tyr704Phe	missense variant	-	NC_000012.12:g.42460194T>A	ExAC,gnomAD
rs765001355	p.Thr705Asn	missense variant	-	NC_000012.12:g.42460191G>T	ExAC,TOPMed,gnomAD
rs765001355	p.Thr705Ile	missense variant	-	NC_000012.12:g.42460191G>A	ExAC,TOPMed,gnomAD
rs377228096	p.Pro706Ala	missense variant	-	NC_000012.12:g.42460189G>C	ESP,ExAC,TOPMed,gnomAD
rs377228096	p.Pro706Ser	missense variant	-	NC_000012.12:g.42460189G>A	ESP,ExAC,TOPMed,gnomAD
rs369077719	p.Asp707Asn	missense variant	-	NC_000012.12:g.42460186C>T	ESP,ExAC,gnomAD
rs371991440	p.Asn708Asp	missense variant	-	NC_000012.12:g.42460183T>C	ESP,ExAC,gnomAD
rs750226436	p.Tyr709Cys	missense variant	-	NC_000012.12:g.42460179T>C	TOPMed
rs774624657	p.Glu710Lys	missense variant	-	NC_000012.12:g.42460177C>T	ExAC,gnomAD
COSM1361553	p.Glu710Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460175C>A	NCI-TCGA Cosmic
COSM468339	p.Lys711Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460173T>G	NCI-TCGA Cosmic
COSM939259	p.Phe712Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460170A>C	NCI-TCGA Cosmic
COSM72286	p.Ile713Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460168T>C	NCI-TCGA Cosmic
rs749541698	p.Asn715Lys	missense variant	-	NC_000012.12:g.42460160A>T	ExAC,gnomAD
NCI-TCGA novel	p.Asn715Lys	missense variant	-	NC_000012.12:g.42460160A>C	NCI-TCGA
rs768827796	p.Asn715Ser	missense variant	-	NC_000012.12:g.42460161T>C	ExAC,gnomAD
rs775721420	p.Lys716Arg	missense variant	-	NC_000012.12:g.42460158T>C	ExAC,gnomAD
rs1169709352	p.Ala718Thr	missense variant	-	NC_000012.12:g.42460153C>T	gnomAD
rs1474386408	p.Ala718Val	missense variant	-	NC_000012.12:g.42460152G>A	gnomAD
NCI-TCGA novel	p.Arg719Leu	missense variant	-	NC_000012.12:g.42460149C>A	NCI-TCGA
rs779059953	p.Arg719Gln	missense variant	-	NC_000012.12:g.42460149C>T	ExAC,TOPMed,gnomAD
rs746199700	p.Arg719Trp	missense variant	-	NC_000012.12:g.42460150G>A	ExAC,TOPMed,gnomAD
rs757810750	p.Glu720Lys	missense variant	-	NC_000012.12:g.42460147C>T	ExAC,gnomAD
rs1179638990	p.Glu720Gly	missense variant	-	NC_000012.12:g.42460146T>C	gnomAD
rs796052933	p.Ala723Thr	missense variant	-	NC_000012.12:g.42460138C>T	-
RCV000188750	p.Ala723Thr	missense variant	-	NC_000012.12:g.42460138C>T	ClinVar
rs747481880	p.Tyr724Phe	missense variant	-	NC_000012.12:g.42460134T>A	ExAC,gnomAD
rs1555229265	p.Ile725Met	missense variant	-	NC_000012.12:g.42460130G>C	-
COSM6136637	p.Ile725Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460132T>C	NCI-TCGA Cosmic
RCV000646042	p.Ile725Met	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460130G>C	ClinVar
rs1295243932	p.Ala728Gly	missense variant	-	NC_000012.12:g.42460122G>C	TOPMed
COSM1361551	p.Ala728Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460122G>T	NCI-TCGA Cosmic
rs867192260	p.Asp729Gly	missense variant	-	NC_000012.12:g.42460119T>C	TOPMed,gnomAD
rs777329767	p.Leu730His	missense variant	-	NC_000012.12:g.42460116A>T	ExAC,TOPMed,gnomAD
rs567656128	p.Tyr731Cys	missense variant	-	NC_000012.12:g.42460113T>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM3792580	p.Tyr731Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.42460112G>T	NCI-TCGA Cosmic
RCV000646055	p.Gly732Arg	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460111C>T	ClinVar
rs150287042	p.Gly732Arg	missense variant	-	NC_000012.12:g.42460111C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM4911580	p.Ala735Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460102C>T	NCI-TCGA Cosmic
rs1459887277	p.His736Arg	missense variant	-	NC_000012.12:g.42460098T>C	TOPMed,gnomAD
COSM1562115	p.His736Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460099G>T	NCI-TCGA Cosmic
rs753625155	p.Ala737Thr	missense variant	-	NC_000012.12:g.42460096C>T	ExAC,gnomAD
RCV000367059	p.Thr738Ala	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460093T>C	ClinVar
rs886049375	p.Thr738Ala	missense variant	-	NC_000012.12:g.42460093T>C	TOPMed,gnomAD
RCV000656030	p.Ser739Phe	missense variant	Rolandic epilepsy	NC_000012.12:g.42460089G>A	ClinVar
rs138452760	p.Ser739Phe	missense variant	-	NC_000012.12:g.42460089G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs760738396	p.Asp740Tyr	missense variant	-	NC_000012.12:g.42460087C>A	ExAC,TOPMed,gnomAD
rs760738396	p.Asp740Asn	missense variant	-	NC_000012.12:g.42460087C>T	ExAC,TOPMed,gnomAD
rs375420597	p.Tyr741Cys	missense variant	-	NC_000012.12:g.42460083T>C	ESP,ExAC,TOPMed,gnomAD
rs1180000042	p.Gly742Asp	missense variant	-	NC_000012.12:g.42460080C>T	gnomAD
rs370967125	p.Gly742Ser	missense variant	-	NC_000012.12:g.42460081C>T	ESP,ExAC,TOPMed,gnomAD
RCV000188751	p.Gly742Ser	missense variant	-	NC_000012.12:g.42460081C>T	ClinVar
rs3827522	p.Pro746Ala	missense variant	-	NC_000012.12:g.42460069G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000333507	p.Pro746Ser	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460069G>A	ClinVar
rs3827522	p.Pro746Ser	missense variant	-	NC_000012.12:g.42460069G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1251795147	p.Asn749Ser	missense variant	-	NC_000012.12:g.42460059T>C	gnomAD
rs1156455994	p.Arg750Trp	missense variant	-	NC_000012.12:g.42460057G>A	gnomAD
rs1323129125	p.Arg750Gln	missense variant	-	NC_000012.12:g.42460056C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gly753Glu	missense variant	-	NC_000012.12:g.42460047C>T	NCI-TCGA
rs777019107	p.Gly756Ser	missense variant	-	NC_000012.12:g.42460039C>T	ExAC,gnomAD
RCV000536124	p.Glu757Lys	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460036C>T	ClinVar
RCV000188731	p.Glu757Lys	missense variant	-	NC_000012.12:g.42460036C>T	ClinVar
RCV000716611	p.Glu757Lys	missense variant	-	NC_000012.12:g.42460036C>T	ClinVar
rs145860632	p.Glu757Lys	missense variant	-	NC_000012.12:g.42460036C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs886042287	p.Asp759Asn	missense variant	-	NC_000012.12:g.42460030C>T	-
RCV000382170	p.Asp759Asn	missense variant	-	NC_000012.12:g.42460030C>T	ClinVar
rs778196919	p.Asp759Gly	missense variant	-	NC_000012.12:g.42460029T>C	ExAC,TOPMed,gnomAD
rs1224570985	p.Asp760Asn	missense variant	-	NC_000012.12:g.42460027C>T	TOPMed
rs1315175045	p.Ser761Phe	missense variant	-	NC_000012.12:g.42460023G>A	TOPMed
rs886044288	p.Cys763Ser	missense variant	-	NC_000012.12:g.42460017C>G	gnomAD
rs886044288	p.Cys763Tyr	missense variant	-	NC_000012.12:g.42460017C>T	gnomAD
RCV000358745	p.Cys763Tyr	missense variant	-	NC_000012.12:g.42460017C>T	ClinVar
rs747655113	p.Ser765Phe	missense variant	-	NC_000012.12:g.42460011G>A	ExAC,gnomAD
rs914541520	p.Ser768Phe	missense variant	-	NC_000012.12:g.42460002G>A	TOPMed
rs146670726	p.Asp771Tyr	missense variant	-	NC_000012.12:g.42459994C>A	ESP,ExAC,TOPMed,gnomAD
rs146670726	p.Asp771Asn	missense variant	-	NC_000012.12:g.42459994C>T	ESP,ExAC,TOPMed,gnomAD
rs146670726	p.Asp771Asn	missense variant	-	NC_000012.12:g.42459994C>T	UniProt,dbSNP
VAR_066857	p.Asp771Asn	missense variant	-	NC_000012.12:g.42459994C>T	UniProt
NCI-TCGA novel	p.Asp771Val	missense variant	-	NC_000012.12:g.42459993T>A	NCI-TCGA
rs1191261840	p.Ser772Leu	missense variant	-	NC_000012.12:g.42459990G>A	gnomAD
RCV000697300	p.Glu775Gly	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459981T>C	ClinVar
COSM3460667	p.Glu775Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42459980T>G	NCI-TCGA Cosmic
rs1239945627	p.Glu775Gly	missense variant	-	NC_000012.12:g.42459981T>C	gnomAD
COSM1322516	p.Gly776Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.42459979C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly776Val	missense variant	-	NC_000012.12:g.42459978C>A	NCI-TCGA
NCI-TCGA novel	p.Tyr777Ter	stop gained	-	NC_000012.12:g.42459974A>T	NCI-TCGA
rs768039518	p.Tyr777Cys	missense variant	-	NC_000012.12:g.42459975T>C	ExAC,TOPMed,gnomAD
RCV000482708	p.Tyr777Cys	missense variant	-	NC_000012.12:g.42459975T>C	ClinVar
NCI-TCGA novel	p.Leu779GlyPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.42459947_42459971GGGTTGAGGGATTGGTTGTCCAAGA>-	NCI-TCGA
rs374409698	p.Leu779Pro	missense variant	-	NC_000012.12:g.42459969A>G	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Gly780Glu	missense variant	-	NC_000012.12:g.42459966C>T	NCI-TCGA
rs752866274	p.Pro782Ser	missense variant	-	NC_000012.12:g.42459961G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro784His	missense variant	-	NC_000012.12:g.42459954G>T	NCI-TCGA
rs765199745	p.Arg787Trp	missense variant	-	NC_000012.12:g.42459946G>A	ExAC
RCV000415096	p.Arg787Trp	missense variant	-	NC_000012.12:g.42459946G>A	ClinVar
rs776819993	p.Arg787Gln	missense variant	-	NC_000012.12:g.42459945C>T	ExAC,TOPMed,gnomAD
rs776819993	p.Arg787Leu	missense variant	-	NC_000012.12:g.42459945C>A	ExAC,TOPMed,gnomAD
rs200984524	p.Pro788Leu	missense variant	-	NC_000012.12:g.42459942G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs549385436	p.Gln789His	missense variant	-	NC_000012.12:g.42459938C>G	1000Genomes,ExAC,gnomAD
COSM3416835	p.Arg790Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42459936C>A	NCI-TCGA Cosmic
rs1448019140	p.Phe791Leu	missense variant	-	NC_000012.12:g.42459934A>G	gnomAD
rs201705679	p.Tyr794His	missense variant	-	NC_000012.12:g.42459925A>G	ExAC,TOPMed,gnomAD
VAR_066858	p.Ser799Cys	Missense	-	-	UniProt
rs139855191	p.Ser800Arg	missense variant	-	NC_000012.12:g.42459905A>T	ESP,ExAC,gnomAD
rs779783898	p.Pro801Ser	missense variant	-	NC_000012.12:g.42459904G>A	ExAC,TOPMed,gnomAD
rs779783898	p.Pro801Ala	missense variant	-	NC_000012.12:g.42459904G>C	ExAC,TOPMed,gnomAD
rs150545495	p.Pro802Ser	missense variant	-	NC_000012.12:g.42459901G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000306724	p.Pro802Ser	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459901G>A	ClinVar
rs1477936981	p.Ala804Thr	missense variant	-	NC_000012.12:g.42459895C>T	gnomAD
COSM693117	p.Pro806His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42459888G>T	NCI-TCGA Cosmic
rs780823369	p.Pro808Thr	missense variant	-	NC_000012.12:g.42459883G>T	ExAC,gnomAD
rs142613488	p.Gln809Glu	missense variant	-	NC_000012.12:g.42459880G>C	ESP,ExAC,TOPMed,gnomAD
rs142613488	p.Gln809Lys	missense variant	-	NC_000012.12:g.42459880G>T	ESP,ExAC,TOPMed,gnomAD
rs751446088	p.Gly811Ser	missense variant	-	NC_000012.12:g.42459874C>T	ExAC,gnomAD
RCV000646038	p.Gly811Ser	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459874C>T	ClinVar
COSM1361550	p.Gln812Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42459870T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr814Lys	missense variant	-	NC_000012.12:g.42459864G>T	NCI-TCGA
NCI-TCGA novel	p.Thr814Ala	missense variant	-	NC_000012.12:g.42459865T>C	NCI-TCGA
rs1304426627	p.Lys816Glu	missense variant	-	NC_000012.12:g.42459859T>C	gnomAD
NCI-TCGA novel	p.Lys816Ile	missense variant	-	NC_000012.12:g.42459858T>A	NCI-TCGA
rs1305882970	p.Lys818Arg	missense variant	-	NC_000012.12:g.42459852T>C	gnomAD
rs1294910838	p.Lys818Asn	missense variant	-	NC_000012.12:g.42459851C>G	gnomAD
rs1342604313	p.Lys820Gln	missense variant	-	NC_000012.12:g.42459847T>G	gnomAD
COSM431093	p.Lys820Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42459845T>G	NCI-TCGA Cosmic
rs754065513	p.Lys821Arg	missense variant	-	NC_000012.12:g.42459843T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly822Arg	missense variant	-	NC_000012.12:g.42459841C>T	NCI-TCGA
rs1371533275	p.Gly822Val	missense variant	-	NC_000012.12:g.42459840C>A	TOPMed
rs1025491656	p.Lys824Arg	missense variant	-	NC_000012.12:g.42459834T>C	TOPMed
rs1555229171	p.Gly825Ser	missense variant	-	NC_000012.12:g.42459832C>T	-
RCV000551581	p.Gly825Ser	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459832C>T	ClinVar
COSM6136638	p.Asn827Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42459825T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn827IlePheSerTerUnkUnk	frameshift	-	NC_000012.12:g.42459825T>-	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0004134	Ataxia	phenotype	BEFREE
C0004138	Ataxias, Hereditary	group	GENOMICS_ENGLAND
C0007758	Cerebellar Ataxia	phenotype	BEFREE
C0009207	Cockayne Syndrome	disease	MGD
C0013362	Dysarthria	disease	HPO
C0014544	Epilepsy	disease	BEFREE
C0014556	Epilepsy, Temporal Lobe	disease	RGD
C0018213	Graves Disease	disease	GWASCAT;GWASDB
C0023892	Biliary cirrhosis	disease	GWASDB
C0027066	Myoclonus	phenotype	LHGDN
C0027794	Neural Tube Defects	group	BEFREE
C0027819	Neuroblastoma	group	BEFREE
C0028326	Noonan Syndrome	disease	MGD
C0032897	Prader-Willi Syndrome	disease	MGD
C0034935	Babinski Reflex	phenotype	HPO
C0036572	Seizures	phenotype	BEFREE
C0040822	Tremor	phenotype	HPO
C0175691	Dubowitz syndrome	disease	MGD
C0175693	Russell-Silver syndrome	disease	MGD
C0175701	Aarskog syndrome	disease	MGD
C0220704	Shprintzen syndrome	disease	MGD
C0234162	Cerebellar Dysmetria	phenotype	HPO
C0234376	Action Tremor	phenotype	HPO
C0265202	Seckel syndrome	disease	MGD
C0265205	Robinow Syndrome	disease	MGD
C0270824	Visual seizure	disease	RGD
C0270846	Epileptic drop attack	disease	HPO
C0270972	Cornelia De Lange Syndrome	disease	MGD
C0279000	Liver and Intrahepatic Biliary Tract Carcinoma	disease	BEFREE
C0345904	Malignant neoplasm of liver	disease	BEFREE
C0347915	Congenital malformation syndromes associated with short stature	disease	MGD
C0543888	Epileptic encephalopathy	disease	GENOMICS_ENGLAND
C0700095	Central neuroblastoma	disease	BEFREE
C0750937	Ataxia, Appendicular	phenotype	HPO
C0751778	Myoclonic Epilepsies, Progressive	disease	BEFREE;HPO
C0751785	Unverricht-Lundborg Syndrome	disease	BEFREE;ORPHANET
C1510586	Autism Spectrum Disorders	disease	BEFREE
C1836509	Hypotonic seizures	phenotype	HPO
C1842587	Sensory axonal neuropathy	phenotype	HPO
C1847164	Morning myoclonic jerks	phenotype	HPO
C1849334	Robinow syndrome, autosomal recessive	disease	MGD
C1970883	Peripheral sensory axonal neuropathy	phenotype	HPO
C2239176	Liver carcinoma	disease	BEFREE;LHGDN
C2676254	Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia	disease	CLINVAR;CTD_human;UNIPROT
C3151609	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS	disease	MGD
C3151610	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY	disease	MGD
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C4020856	Terminal tremor	phenotype	HPO
C4021757	EEG with polyspike wave complexes	phenotype	HPO
C4021759	Generalized myoclonic seizures	disease	HPO
C4317123	Myoclonic Seizures	phenotype	HPO
C4476550	Sudden loss of muscle tone	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0008270	zinc ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001843	neural tube closure	IMP
GO:0006606	protein import into nucleus	IMP
GO:0006606	protein import into nucleus	IDA
GO:0031398	positive regulation of protein ubiquitination	IDA
GO:0032436	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA
GO:0035904	aorta development	IEA
GO:0045892	negative regulation of transcription, DNA-templated	IDA
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	NAS
GO:0060976	coronary vasculature development	IEA
GO:0090090	negative regulation of canonical Wnt signaling pathway	IDA
GO:2000691	negative regulation of cardiac muscle cell myoblast differentiation	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IDA
GO:0005829	cytosol	IDA
GO:0005829	cytosol	TAS
GO:0031965	nuclear membrane	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-195721	Signaling by WNT	TAS
R-HSA-3858494	Beta-catenin independent WNT signaling	TAS
R-HSA-4086400	PCP/CE pathway	TAS
R-HSA-4608870	Asymmetric localization of PCP proteins	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D020001	1-Butanol	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of PRICKLE1 mRNA	29432896
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of PRICKLE1 mRNA	21346803
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRICKLE1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PRICKLE1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRICKLE1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRICKLE1 mRNA	27188386
C517041	(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) results in increased expression of PRICKLE1 mRNA	19561079
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide affects the expression of PRICKLE1 mRNA	20382639
D000082	Acetaminophen	Acetaminophen results in increased expression of PRICKLE1 mRNA	29067470
D000082	Acetaminophen	Acetaminophen affects the expression of PRICKLE1 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of PRICKLE1 protein	20106945
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of PRICKLE1 gene	27153756
C029753	aflatoxin B2	aflatoxin B2 results in decreased methylation of PRICKLE1 intron	30157460
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in decreased expression of PRICKLE1 mRNA	21298039
C015001	arsenite	arsenite results in increased methylation of PRICKLE1 promoter	23974009
D001280	Atrazine	Atrazine results in decreased expression of PRICKLE1 mRNA	25929836
D001280	Atrazine	Atrazine results in decreased expression of PRICKLE1 mRNA	22378314
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PRICKLE1 mRNA	22316170
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PRICKLE1 mRNA	21569818
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of PRICKLE1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of PRICKLE1 mRNA	25912373; 29275510;
C006780	bisphenol A	bisphenol A results in increased expression of PRICKLE1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of PRICKLE1 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of PRICKLE1 mRNA	30816183
C006780	bisphenol A	bisphenol A results in increased methylation of PRICKLE1 gene	28505145
C000611646	bisphenol F	bisphenol F results in increased expression of PRICKLE1 mRNA	30951980
D001896	Boron Compounds	Boron Compounds results in increased expression of PRICKLE1 mRNA	30684454
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of PRICKLE1 mRNA	17484886
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PRICKLE1 gene	20938992
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of PRICKLE1 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of PRICKLE1 mRNA	19561079
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of PRICKLE1 mRNA	19320972
C018021	cobaltous chloride	cobaltous chloride results in increased expression of PRICKLE1 mRNA	24386269
D003300	Copper	Copper results in increased expression of PRICKLE1 mRNA	30556269
C089595	cylindrospermopsin	cylindrospermopsin results in increased expression of PRICKLE1 mRNA	24921660
D003561	Cytarabine	Cytarabine results in decreased expression of PRICKLE1 mRNA	21198554
D003907	Dexamethasone	Dexamethasone results in decreased expression of PRICKLE1 mRNA	25047013
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of PRICKLE1 mRNA	21266533
D004237	Diuron	Diuron results in increased expression of PRICKLE1 mRNA	21551480
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRICKLE1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PRICKLE1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRICKLE1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRICKLE1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of PRICKLE1 mRNA	29803840
D004726	Endosulfan	Endosulfan results in decreased expression of PRICKLE1 mRNA	29391264
C118739	entinostat	entinostat results in decreased expression of PRICKLE1 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRICKLE1 mRNA	27188386
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in decreased expression of PRICKLE1 mRNA	30165855
D004958	Estradiol	Estradiol results in increased expression of PRICKLE1 mRNA	23019147
D004958	Estradiol	Estradiol results in decreased expression of PRICKLE1 mRNA	25210133
D000431	Ethanol	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of PRICKLE1 mRNA	29432896
D000431	Ethanol	Ethanol affects the splicing of PRICKLE1 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of PRICKLE1 mRNA	23129252
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in decreased expression of PRICKLE1 mRNA	23649840
C061365	flusilazole	flusilazole results in increased expression of PRICKLE1 mRNA	28263823
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PRICKLE1 gene	20938992
D005557	Formaldehyde	Formaldehyde results in decreased expression of PRICKLE1 mRNA	20655997
D005742	Gasoline	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of PRICKLE1 mRNA	29432896
D005742	Gasoline	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of PRICKLE1 mRNA	29432896
D005742	Gasoline	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of PRICKLE1 mRNA	29432896
D005742	Gasoline	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of PRICKLE1 mRNA	29432896
C040507	isobutyl alcohol	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of PRICKLE1 mRNA	29432896
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of PRICKLE1 mRNA	27392435
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PRICKLE1 gene	20938992
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of PRICKLE1 mRNA	23649840
C028577	monobutyl phthalate	monobutyl phthalate affects the expression of PRICKLE1 mRNA	19162170
C583365	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide results in decreased expression of PRICKLE1 mRNA	29244179
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of PRICKLE1 mRNA	25554681; 25620056;
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of PRICKLE1 mRNA	25554681; 25620056;
D009532	Nickel	Nickel results in decreased expression of PRICKLE1 mRNA	24768652; 25583101;
C028007	nickel monoxide	nickel monoxide results in decreased expression of PRICKLE1 mRNA	19167457
C029938	nickel sulfate	nickel sulfate results in decreased expression of PRICKLE1 mRNA	22714537
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of PRICKLE1 mRNA	30529165
D052638	Particulate Matter	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of PRICKLE1 mRNA	29432896
D052638	Particulate Matter	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of PRICKLE1 mRNA	29432896
D052638	Particulate Matter	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of PRICKLE1 mRNA	29432896
D052638	Particulate Matter	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of PRICKLE1 mRNA	29432896
D052638	Particulate Matter	Particulate Matter results in decreased expression of PRICKLE1 mRNA	17450221; 29703138;
D010634	Phenobarbital	Phenobarbital affects the expression of PRICKLE1 mRNA	23091169
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PRICKLE1 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of PRICKLE1 mRNA	26272509
C006253	pirinixic acid	pirinixic acid results in decreased expression of PRICKLE1 mRNA	20813756
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of PRICKLE1 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of PRICKLE1 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of PRICKLE1 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of PRICKLE1 mRNA	29432896
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of PRICKLE1 mRNA	22714537
C045950	propiconazole	propiconazole results in decreased expression of PRICKLE1 mRNA	21278054
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of PRICKLE1 mRNA	24780913
D012402	Rotenone	Rotenone results in decreased expression of PRICKLE1 mRNA	29955902
D012834	Silver	Silver results in increased expression of PRICKLE1 mRNA	27131904
D012906	Smoke	Smoke results in decreased expression of PRICKLE1 mRNA	21095227
C017947	sodium arsenite	sodium arsenite results in decreased expression of PRICKLE1 mRNA	22714537
D053260	Soot	Soot results in decreased expression of PRICKLE1 mRNA	22461453; 26551751;
D000077210	Sunitinib	Sunitinib results in decreased expression of PRICKLE1 mRNA	31533062
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of PRICKLE1 mRNA	31299295
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PRICKLE1 mRNA	21570461
C009495	titanium dioxide	titanium dioxide results in decreased expression of PRICKLE1 mRNA	23557971; 27760801;
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of PRICKLE1 mRNA	22363418; 28065790;
C024746	tobacco tar	tobacco tar results in increased expression of PRICKLE1 mRNA	19559774
C483909	torcetrapib	torcetrapib results in increased expression of PRICKLE1 mRNA	23228038
D014212	Tretinoin	Tretinoin results in increased expression of PRICKLE1 mRNA	21934132
D014212	Tretinoin	Tretinoin results in increased expression of PRICKLE1 mRNA	20488242
C032910	triadimefon	triadimefon results in decreased expression of PRICKLE1 mRNA	26705709
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRICKLE1 mRNA	27188386
C012589	trichostatin A	trichostatin A results in decreased expression of PRICKLE1 mRNA	24935251; 26272509;
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of PRICKLE1 mRNA	26179874
D014415	Tunicamycin	Tunicamycin results in decreased expression of PRICKLE1 mRNA	22378314
D014635	Valproic Acid	Valproic Acid results in decreased expression of PRICKLE1 mRNA	24935251
D014638	Vanadates	Vanadates results in increased expression of PRICKLE1 mRNA	22714537
C029297	vinylidene chloride	vinylidene chloride results in decreased expression of PRICKLE1 mRNA	26682919
D000077337	Vorinostat	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRICKLE1 mRNA	27188386

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0963	Cytoplasm
KW-0225	Disease mutation
KW-0887	Epilepsy
KW-0440	LIM domain
KW-0449	Lipoprotein
KW-0472	Membrane
KW-0479	Metal-binding
KW-0488	Methylation
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0636	Prenylation
KW-1185	Reference proteome
KW-0677	Repeat
KW-0862	Zinc

Interpro

InterPro ID	InterPro Term
IPR033726	LIM2_prickle
IPR033727	LIM3_prickle
IPR010442	PET_domain
IPR033723	PET_prickle
IPR001781	Znf_LIM

PROSITE

PROSITE ID	PROSITE Term
PS00478	LIM_DOMAIN_1
PS50023	LIM_DOMAIN_2
PS51303	PET

Pfam

Pfam ID	Pfam Term
PF00412	LIM
PF06297	PET

Gene: PRICKLE1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction