CleftGeneDB-Search

Gene: STK32B

Basic information

Tag	Content
Uniprot ID	Q9NY57; Q6UXH3; Q8IY14;
Entrez ID	55351
Genbank protein ID	AAH38238.1; CAB76471.1; AAQ88719.1;
Genbank nucleotide ID	NM_001306082.1; NM_018401.2;
Ensembl protein ID	ENSP00000420984; ENSP00000282908;
Ensembl nucleotide ID	ENSG00000152953
Gene name	Serine/threonine-protein kinase 32B
Gene symbol	STK32B
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	20087401
Functional description
Sequence	MGGNHSHKPP VFDENEEVNF DHFQILRAIG KGSFGKVCIV QKRDTKKMYA MKYMNKQKCI 60 ERDEVRNVFR ELQIMQGLEH PFLVNLWYSF QDEEDMFMVV DLLLGGDLRY HLQQNVHFTE 120 GTVKLYICEL ALALEYLQRY HIIHRDIKPD NILLDEHGHV HITDFNIATV VKGAERASSM 180 AGTKPYMAPE VFQVYMDRGP GYSYPVDWWS LGITAYELLR GWRPYEIHSV TPIDEILNMF 240 KVERVHYSST WCKGMVALLR KLLTKDPESR VSSLHDIQSV PYLADMNWDA VFKKALMPGF 300 VPNKGRLNCD PTFELEEMIL ESKPLHKKKK RLAKNRSRDG TKDSCPLNGH LQHCLETVRE 360 EFIIFNREKL RRQQGQGSQL LDTDSRGGGQ AQSKLQDGCN NNLLTHTCTR GCSS 414

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	Species	Evidence	Details
1:1 ortholog	STK32B		A0A452FIT8	Capra hircus	Prediction	More>>
1:1 ortholog	STK32B	55351	Q9NY57	Homo sapiens	Publication	More>>
1:1 ortholog	Stk32b	64293	Q9JJX8	Mus musculus	Prediction	More>>
1:1 ortholog	STK32B		A0A2I3SQX6	Pan troglodytes	Prediction	More>>
1:1 ortholog	STK32B		A0A287BIJ9	Sus scrofa	Prediction	More>>
1:1 ortholog	Stk32b	305431	F1M3G9	Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1198437328	p.Gly3Glu	missense variant	-	NC_000004.12:g.5051871G>A	gnomAD
NCI-TCGA novel	p.Gly3Trp	missense variant	-	NC_000004.12:g.5051870G>T	NCI-TCGA
rs1299343785	p.Asn4Lys	missense variant	-	NC_000004.12:g.5051875C>A	TOPMed
rs148512879	p.His5Gln	missense variant	-	NC_000004.12:g.5051878C>G	ESP,ExAC,gnomAD
rs1197877399	p.His7Gln	missense variant	-	NC_000004.12:g.5051884C>G	TOPMed,gnomAD
rs1402332548	p.His7Tyr	missense variant	-	NC_000004.12:g.5051882C>T	TOPMed
rs1194742604	p.Lys8Glu	missense variant	-	NC_000004.12:g.5051885A>G	gnomAD
rs753328623	p.Pro9Leu	missense variant	-	NC_000004.12:g.5051889C>T	ExAC,TOPMed,gnomAD
rs142664782	p.Pro9Ser	missense variant	-	NC_000004.12:g.5051888C>T	ESP,ExAC,TOPMed,gnomAD
rs753328623	p.Pro9His	missense variant	-	NC_000004.12:g.5051889C>A	ExAC,TOPMed,gnomAD
rs142664782	p.Pro9Thr	missense variant	-	NC_000004.12:g.5051888C>A	ESP,ExAC,TOPMed,gnomAD
rs778688990	p.Pro10Thr	missense variant	-	NC_000004.12:g.5051891C>A	ExAC,TOPMed,gnomAD
rs778688990	p.Pro10Ser	missense variant	-	NC_000004.12:g.5051891C>T	ExAC,TOPMed,gnomAD
rs377478284	p.Val11Gly	missense variant	-	NC_000004.12:g.5051895T>G	ESP,TOPMed,gnomAD
rs1003605453	p.Val11Met	missense variant	-	NC_000004.12:g.5051894G>A	TOPMed
rs377478284	p.Val11Glu	missense variant	-	NC_000004.12:g.5051895T>A	ESP,TOPMed,gnomAD
rs1003605453	p.Val11Met	missense variant	-	NC_000004.12:g.5051894G>A	NCI-TCGA
COSM4730575	p.Val11CysPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.5051888C>-	NCI-TCGA Cosmic
rs1443032951	p.Asp13Gly	missense variant	-	NC_000004.12:g.5051901A>G	gnomAD
rs1312468093	p.Asn15Ser	missense variant	-	NC_000004.12:g.5051907A>G	TOPMed
rs1385208524	p.Glu16Asp	missense variant	-	NC_000004.12:g.5051911G>C	gnomAD
rs371186002	p.Glu16Gly	missense variant	-	NC_000004.12:g.5051910A>G	ESP,ExAC,gnomAD
rs1297751294	p.Glu17Lys	missense variant	-	NC_000004.12:g.5051912G>A	gnomAD
rs778226781	p.Asn19Thr	missense variant	-	NC_000004.12:g.5139908A>C	ExAC,TOPMed,gnomAD
rs747384315	p.Phe20Ile	missense variant	-	NC_000004.12:g.5139910T>A	ExAC,TOPMed,gnomAD
rs1411826365	p.His22Arg	missense variant	-	NC_000004.12:g.5139917A>G	gnomAD
rs564594306	p.Phe23Tyr	missense variant	-	NC_000004.12:g.5139920T>A	1000Genomes,ExAC,gnomAD
rs762345352	p.Arg27Gln	missense variant	-	NC_000004.12:g.5139932G>A	NCI-TCGA
rs777255527	p.Arg27Trp	missense variant	-	NC_000004.12:g.5139931C>T	ExAC,TOPMed,gnomAD
rs777255527	p.Arg27Trp	missense variant	-	NC_000004.12:g.5139931C>T	NCI-TCGA,NCI-TCGA Cosmic
rs762345352	p.Arg27Gln	missense variant	-	NC_000004.12:g.5139932G>A	ExAC,gnomAD
NCI-TCGA novel	p.Lys31Arg	missense variant	-	NC_000004.12:g.5139944A>G	NCI-TCGA
rs767165585	p.Gly32Arg	missense variant	-	NC_000004.12:g.5139946G>C	NCI-TCGA,NCI-TCGA Cosmic
rs767165585	p.Gly32Trp	missense variant	-	NC_000004.12:g.5139946G>T	ExAC,TOPMed,gnomAD
rs767165585	p.Gly32Arg	missense variant	-	NC_000004.12:g.5139946G>C	ExAC,TOPMed,gnomAD
COSM734238	p.Gly32Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5139947G>T	NCI-TCGA Cosmic
rs1273683262	p.Ser33Asn	missense variant	-	NC_000004.12:g.5139950G>A	gnomAD
COSM1429975	p.Gly35Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5139955G>A	NCI-TCGA Cosmic
VAR_041166	p.Gly35Glu	Missense	-	-	UniProt
rs778124195	p.Lys36Arg	missense variant	-	NC_000004.12:g.5139959A>G	ExAC,TOPMed,gnomAD
rs778124195	p.Lys36Thr	missense variant	-	NC_000004.12:g.5139959A>C	ExAC,TOPMed,gnomAD
COSM734237	p.Lys36Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5139959A>T	NCI-TCGA Cosmic
rs1199168608	p.Val37Leu	missense variant	-	NC_000004.12:g.5168299G>C	TOPMed
rs757496156	p.Cys38Arg	missense variant	-	NC_000004.12:g.5168302T>C	ExAC,gnomAD
rs750791100	p.Ile39Val	missense variant	-	NC_000004.12:g.5168305A>G	ExAC,TOPMed,gnomAD
rs545537211	p.Val40Met	missense variant	-	NC_000004.12:g.5168308G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1338922986	p.Gln41Arg	missense variant	-	NC_000004.12:g.5168312A>G	TOPMed
rs749831897	p.Arg43Ter	stop gained	-	NC_000004.12:g.5168317C>T	ExAC,TOPMed,gnomAD
rs777210952	p.Arg43Gln	missense variant	-	NC_000004.12:g.5168318G>A	ExAC,TOPMed,gnomAD
rs1377864060	p.Thr45Ile	missense variant	-	NC_000004.12:g.5168324C>T	gnomAD
rs770612287	p.Thr45Ala	missense variant	-	NC_000004.12:g.5168323A>G	ExAC,TOPMed,gnomAD
rs1174000021	p.Lys47Thr	missense variant	-	NC_000004.12:g.5168330A>C	gnomAD
rs1229010019	p.Lys47Ter	stop gained	-	NC_000004.12:g.5168329A>T	gnomAD
rs776205066	p.Met48Arg	missense variant	-	NC_000004.12:g.5168333T>G	ExAC,TOPMed,gnomAD
rs776205066	p.Met48Thr	missense variant	-	NC_000004.12:g.5168333T>C	ExAC,TOPMed,gnomAD
COSM1429976	p.Met48Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5168332A>T	NCI-TCGA Cosmic
rs769518247	p.Met51Val	missense variant	-	NC_000004.12:g.5168341A>G	ExAC,TOPMed,gnomAD
rs775454756	p.Met54Val	missense variant	-	NC_000004.12:g.5168350A>G	ExAC,gnomAD
rs1388650594	p.Asn55His	missense variant	-	NC_000004.12:g.5168353A>C	TOPMed,gnomAD
rs1388650594	p.Asn55Asp	missense variant	-	NC_000004.12:g.5168353A>G	TOPMed,gnomAD
rs762934069	p.Asn55Ser	missense variant	-	NC_000004.12:g.5168354A>G	ExAC,gnomAD
rs1231261387	p.Gln57Pro	missense variant	-	NC_000004.12:g.5168360A>C	gnomAD
rs1231261387	p.Gln57Arg	missense variant	-	NC_000004.12:g.5168360A>G	gnomAD
rs1305495889	p.Gln57Ter	stop gained	-	NC_000004.12:g.5168359C>T	gnomAD
COSM1055887	p.Gln57His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5168361G>T	NCI-TCGA Cosmic
rs143425183	p.Lys58Glu	missense variant	-	NC_000004.12:g.5168362A>G	ESP,ExAC,TOPMed,gnomAD
rs143425183	p.Lys58Gln	missense variant	-	NC_000004.12:g.5168362A>C	ESP,ExAC,TOPMed,gnomAD
rs761860840	p.Ile60Val	missense variant	-	NC_000004.12:g.5168368A>G	ExAC,gnomAD
rs372080812	p.Glu61Lys	missense variant	-	NC_000004.12:g.5168371G>A	ESP,ExAC,TOPMed,gnomAD
rs372080812	p.Glu61Gln	missense variant	-	NC_000004.12:g.5168371G>C	ESP,ExAC,TOPMed,gnomAD
rs541483207	p.Arg62Thr	missense variant	-	NC_000004.12:g.5168375G>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Arg62Met	missense variant	-	NC_000004.12:g.5168375G>T	NCI-TCGA
rs755414078	p.Val65Ile	missense variant	-	NC_000004.12:g.5168383G>A	ExAC,gnomAD
rs375561881	p.Arg66Trp	missense variant	-	NC_000004.12:g.5168386C>T	ESP,ExAC,TOPMed,gnomAD
rs751060581	p.Arg66Gln	missense variant	-	NC_000004.12:g.5168387G>A	ExAC,TOPMed,gnomAD
COSM4915747	p.Val68Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5168393T>A	NCI-TCGA Cosmic
rs371890370	p.Arg70Trp	missense variant	-	NC_000004.12:g.5168398C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200882867	p.Arg70Gln	missense variant	-	NC_000004.12:g.5168399G>A	ESP,ExAC,TOPMed,gnomAD
COSM6100342	p.Arg70Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5168399G>T	NCI-TCGA Cosmic
rs1352713397	p.Glu71Lys	missense variant	-	NC_000004.12:g.5168401G>A	gnomAD
rs988960010	p.Gln73Ter	stop gained	-	NC_000004.12:g.5168407C>T	TOPMed,gnomAD
rs745472588	p.Gln73His	missense variant	-	NC_000004.12:g.5168409G>C	ExAC,TOPMed,gnomAD
rs769507072	p.Ile74Asn	missense variant	-	NC_000004.12:g.5168411T>A	ExAC,gnomAD
rs769507072	p.Ile74Ser	missense variant	-	NC_000004.12:g.5168411T>G	ExAC,gnomAD
NCI-TCGA novel	p.Met75Ile	missense variant	-	NC_000004.12:g.5168415G>T	NCI-TCGA
rs373306420	p.Gln76Glu	missense variant	-	NC_000004.12:g.5168416C>G	ESP,ExAC,TOPMed,gnomAD
rs1218432857	p.Gln76His	missense variant	-	NC_000004.12:g.5168418A>T	TOPMed,gnomAD
rs146725950	p.Gln76Arg	missense variant	-	NC_000004.12:g.5168417A>G	ESP,ExAC,gnomAD
rs199646927	p.Gly77Arg	missense variant	-	NC_000004.12:g.5168419G>A	1000Genomes,ExAC,gnomAD
rs757057483	p.Leu78Met	missense variant	-	NC_000004.12:g.5168422C>A	ExAC,TOPMed,gnomAD
rs773370528	p.Glu79Lys	missense variant	-	NC_000004.12:g.5168425G>A	ExAC,gnomAD
rs140264745	p.His80Gln	missense variant	-	NC_000004.12:g.5168430C>G	ESP,TOPMed,gnomAD
rs760752437	p.Pro81Arg	missense variant	-	NC_000004.12:g.5168432C>G	ExAC,gnomAD
rs1325990926	p.Leu83Val	missense variant	-	NC_000004.12:g.5168437C>G	TOPMed
rs377501200	p.Val84Asp	missense variant	-	NC_000004.12:g.5168441T>A	ESP,gnomAD
rs377501200	p.Val84Gly	missense variant	-	NC_000004.12:g.5168441T>G	ESP,gnomAD
rs754198223	p.Val84Leu	missense variant	-	NC_000004.12:g.5168440G>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu86Met	missense variant	-	NC_000004.12:g.5168446C>A	NCI-TCGA
rs1210596036	p.Trp87Ter	stop gained	-	NC_000004.12:g.5331220G>A	gnomAD
rs1210596036	p.Trp87Cys	missense variant	-	NC_000004.12:g.5331220G>C	gnomAD
rs1192711962	p.Trp87Arg	missense variant	-	NC_000004.12:g.5168449T>C	gnomAD
rs775948330	p.Tyr88Ter	stop gained	-	NC_000004.12:g.5331223C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr88Asp	missense variant	-	NC_000004.12:g.5331221T>G	NCI-TCGA
rs763308670	p.Phe90Ser	missense variant	-	NC_000004.12:g.5331228T>C	ExAC,gnomAD
rs948957365	p.Gln91Arg	missense variant	-	NC_000004.12:g.5331231A>G	TOPMed
NCI-TCGA novel	p.Asp92Asn	missense variant	-	NC_000004.12:g.5331233G>A	NCI-TCGA
rs1217612632	p.Glu93Val	missense variant	-	NC_000004.12:g.5331237A>T	TOPMed
NCI-TCGA novel	p.Glu93Lys	missense variant	-	NC_000004.12:g.5331236G>A	NCI-TCGA
rs1201342426	p.Glu94Lys	missense variant	-	NC_000004.12:g.5331239G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu94Ter	stop gained	-	NC_000004.12:g.5331239G>T	NCI-TCGA
rs1377554298	p.Met96Thr	missense variant	-	NC_000004.12:g.5331246T>C	TOPMed
rs1269653643	p.Met96Ile	missense variant	-	NC_000004.12:g.5331247G>A	gnomAD
NCI-TCGA novel	p.Phe97Leu	missense variant	-	NC_000004.12:g.5331248T>C	NCI-TCGA
NCI-TCGA novel	p.Met98Ile	missense variant	-	NC_000004.12:g.5331253G>A	NCI-TCGA
rs1238710384	p.Val99Ala	missense variant	-	NC_000004.12:g.5331255T>C	gnomAD
NCI-TCGA novel	p.Val100Leu	missense variant	-	NC_000004.12:g.5331257G>C	NCI-TCGA
rs549068199	p.Leu103Phe	missense variant	-	NC_000004.12:g.5331266C>T	1000Genomes,ExAC,gnomAD
rs1467502143	p.Gly105Glu	missense variant	-	NC_000004.12:g.5331273G>A	gnomAD
rs766107862	p.Gly105Arg	missense variant	-	NC_000004.12:g.5331272G>A	ExAC,gnomAD
rs1246720519	p.Gly106Asp	missense variant	-	NC_000004.12:g.5331276G>A	gnomAD
rs1440862465	p.Asp107Glu	missense variant	-	NC_000004.12:g.5331280C>A	gnomAD
rs754708470	p.Asp107Asn	missense variant	-	NC_000004.12:g.5331278G>A	ExAC,gnomAD
rs747981829	p.Arg109His	missense variant	-	NC_000004.12:g.5331285G>A	ExAC,TOPMed,gnomAD
rs137874810	p.Arg109Cys	missense variant	-	NC_000004.12:g.5331284C>T	ESP,ExAC,TOPMed,gnomAD
rs758265694	p.His111Arg	missense variant	-	NC_000004.12:g.5331291A>G	ExAC,TOPMed,gnomAD
rs1481359190	p.Gln113Ter	stop gained	-	NC_000004.12:g.5331296C>T	TOPMed
rs747038457	p.Gln114Arg	missense variant	-	NC_000004.12:g.5331300A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln114Leu	missense variant	-	NC_000004.12:g.5331300A>T	NCI-TCGA
rs771042556	p.Asn115Thr	missense variant	-	NC_000004.12:g.5331303A>C	ExAC,gnomAD
rs1437112735	p.Asn115His	missense variant	-	NC_000004.12:g.5331302A>C	gnomAD
rs776726197	p.Val116Met	missense variant	-	NC_000004.12:g.5331305G>A	ExAC,gnomAD
COSM6100309	p.Val116Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5331306T>A	NCI-TCGA Cosmic
rs1199047989	p.His117Tyr	missense variant	-	NC_000004.12:g.5331308C>T	gnomAD
rs770013842	p.His117Gln	missense variant	-	NC_000004.12:g.5331310T>G	ExAC,gnomAD
rs1171768944	p.Glu120Asp	missense variant	-	NC_000004.12:g.5331319G>T	gnomAD
rs1468595978	p.Gly121Arg	missense variant	-	NC_000004.12:g.5331320G>A	TOPMed
rs1400249355	p.Gly121Glu	missense variant	-	NC_000004.12:g.5331321G>A	gnomAD
rs199915823	p.Val123Met	missense variant	-	NC_000004.12:g.5331326G>A	1000Genomes,TOPMed,gnomAD
rs199915823	p.Val123Leu	missense variant	-	NC_000004.12:g.5331326G>C	1000Genomes,TOPMed,gnomAD
rs149040164	p.Leu125His	missense variant	-	NC_000004.12:g.5331333T>A	ESP,TOPMed
rs1343231990	p.Tyr126His	missense variant	-	NC_000004.12:g.5331335T>C	TOPMed,gnomAD
rs1343231990	p.Tyr126Asp	missense variant	-	NC_000004.12:g.5331335T>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ile127Ser	missense variant	-	NC_000004.12:g.5331339T>G	NCI-TCGA
rs774970997	p.Leu130Val	missense variant	-	NC_000004.12:g.5331347C>G	ExAC,gnomAD
rs765945658	p.Ala131Thr	missense variant	-	NC_000004.12:g.5331350G>A	ExAC,gnomAD
rs754612675	p.Leu132Met	missense variant	-	NC_000004.12:g.5331353C>A	ExAC,gnomAD
rs1452327861	p.Ala133Ser	missense variant	-	NC_000004.12:g.5331356G>T	gnomAD
NCI-TCGA novel	p.Ala133Asp	missense variant	-	NC_000004.12:g.5331357C>A	NCI-TCGA
rs1221811613	p.Leu134Met	missense variant	-	NC_000004.12:g.5331359C>A	gnomAD
rs1489368346	p.Glu135Lys	missense variant	-	NC_000004.12:g.5331362G>A	gnomAD
rs1379294126	p.Leu137Ile	missense variant	-	NC_000004.12:g.5331368C>A	TOPMed
rs1474623698	p.Arg139Met	missense variant	-	NC_000004.12:g.5331375G>T	gnomAD
rs758262361	p.Tyr140Cys	missense variant	-	NC_000004.12:g.5331378A>G	ExAC,gnomAD
rs1415117623	p.His141Asn	missense variant	-	NC_000004.12:g.5331380C>A	TOPMed,gnomAD
rs777544377	p.Ile143Asn	missense variant	-	NC_000004.12:g.5331387T>A	ExAC,gnomAD
COSM3604432	p.His144Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5331389C>T	NCI-TCGA Cosmic
COSM1055970	p.Asp146Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5398208G>T	NCI-TCGA Cosmic
rs749485737	p.Pro149Leu	missense variant	-	NC_000004.12:g.5398218C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro149Ala	missense variant	-	NC_000004.12:g.5398217C>G	NCI-TCGA
rs1453797701	p.Asn151Ser	missense variant	-	NC_000004.12:g.5398224A>G	TOPMed,gnomAD
rs1461277415	p.Asn151Asp	missense variant	-	NC_000004.12:g.5398223A>G	gnomAD
rs768781989	p.Ile152Thr	missense variant	-	NC_000004.12:g.5398227T>C	ExAC,gnomAD
rs141944069	p.Ile152Val	missense variant	-	NC_000004.12:g.5398226A>G	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Leu153Pro	missense variant	-	NC_000004.12:g.5398230T>C	NCI-TCGA
NCI-TCGA novel	p.Leu154ProPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.5398228_5398229insTTACCAATTATTCTCCCACTCCATGT	NCI-TCGA
rs375750468	p.Leu154Pro	missense variant	-	NC_000004.12:g.5398233T>C	ESP,ExAC,TOPMed,gnomAD
rs1451090370	p.His157Arg	missense variant	-	NC_000004.12:g.5398242A>G	TOPMed,gnomAD
rs759087360	p.Gly158Arg	missense variant	-	NC_000004.12:g.5398244G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly158Val	missense variant	-	NC_000004.12:g.5416845G>T	NCI-TCGA
rs753875188	p.Gly158Glu	missense variant	-	NC_000004.12:g.5416845G>A	ExAC,gnomAD
NCI-TCGA novel	p.His159Asn	missense variant	-	NC_000004.12:g.5416847C>A	NCI-TCGA
rs1222095654	p.Val160Ile	missense variant	-	NC_000004.12:g.5416850G>A	gnomAD
rs796052163	p.Thr163Ala	missense variant	-	NC_000004.12:g.5416859A>G	-
RCV000190159	p.Thr163Ala	missense variant	Long QT syndrome (LQTS)	NC_000004.12:g.5416859A>G	ClinVar
rs755159915	p.Thr163Ile	missense variant	-	NC_000004.12:g.5416860C>T	ExAC,gnomAD
rs779336931	p.Asn166Ile	missense variant	-	NC_000004.12:g.5416869A>T	ExAC,gnomAD
rs1319227684	p.Asn166Asp	missense variant	-	NC_000004.12:g.5416868A>G	gnomAD
rs772605768	p.Ile167Thr	missense variant	-	NC_000004.12:g.5416872T>C	ExAC,gnomAD
rs772605768	p.Ile167Lys	missense variant	-	NC_000004.12:g.5416872T>A	ExAC,gnomAD
rs748502788	p.Ile167Val	missense variant	-	NC_000004.12:g.5416871A>G	ExAC,TOPMed,gnomAD
rs778314748	p.Ala168Val	missense variant	-	NC_000004.12:g.5416875C>T	ExAC,TOPMed,gnomAD
rs139253606	p.Thr169Met	missense variant	-	NC_000004.12:g.5416878C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1428884342	p.Val170Ala	missense variant	-	NC_000004.12:g.5416881T>C	gnomAD
rs1425433421	p.Val170Ile	missense variant	-	NC_000004.12:g.5416880G>A	gnomAD
rs748812943	p.Val171Met	missense variant	-	NC_000004.12:g.5416883G>A	ExAC,gnomAD
rs768281954	p.Lys172Arg	missense variant	-	NC_000004.12:g.5416887A>G	ExAC,TOPMed,gnomAD
rs1164246090	p.Gly173Arg	missense variant	-	NC_000004.12:g.5416889G>C	gnomAD
COSM3604440	p.Glu175Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5416895G>A	NCI-TCGA Cosmic
rs761561285	p.Arg176Ser	missense variant	-	NC_000004.12:g.5416900G>C	ExAC,gnomAD
rs1403270244	p.Ala177Asp	missense variant	-	NC_000004.12:g.5416902C>A	TOPMed,gnomAD
rs767259344	p.Met180Thr	missense variant	-	NC_000004.12:g.5416911T>C	ExAC,gnomAD
rs767259344	p.Met180Arg	missense variant	-	NC_000004.12:g.5416911T>G	ExAC,gnomAD
NCI-TCGA novel	p.Met180Ile	missense variant	-	NC_000004.12:g.5416912G>T	NCI-TCGA
rs1300260827	p.Met180Val	missense variant	-	NC_000004.12:g.5416910A>G	gnomAD
rs1294117995	p.Ala181Val	missense variant	-	NC_000004.12:g.5416914C>T	gnomAD
rs1294117995	p.Ala181Gly	missense variant	-	NC_000004.12:g.5416914C>G	gnomAD
rs773012849	p.Ala181Pro	missense variant	-	NC_000004.12:g.5416913G>C	ExAC,gnomAD
rs1323978494	p.Thr183Ile	missense variant	-	NC_000004.12:g.5416920C>T	gnomAD
rs1323978494	p.Thr183Ser	missense variant	-	NC_000004.12:g.5416920C>G	gnomAD
rs1291786613	p.Pro185Ala	missense variant	-	NC_000004.12:g.5416925C>G	gnomAD
NCI-TCGA novel	p.Tyr186Cys	missense variant	-	NC_000004.12:g.5416929A>G	NCI-TCGA
rs760601120	p.Tyr186Asn	missense variant	-	NC_000004.12:g.5416928T>A	ExAC,gnomAD
rs1486096654	p.Met187Ile	missense variant	-	NC_000004.12:g.5416933G>A	gnomAD
rs1289790004	p.Met187Val	missense variant	-	NC_000004.12:g.5416931A>G	TOPMed,gnomAD
rs766231043	p.Ala188Pro	missense variant	-	NC_000004.12:g.5416934G>C	ExAC,gnomAD
rs1459892984	p.Pro189Thr	missense variant	-	NC_000004.12:g.5446675C>A	gnomAD
rs529797356	p.Phe192Leu	missense variant	-	NC_000004.12:g.5446686C>G	1000Genomes,ExAC,gnomAD
rs766502070	p.Val194Ala	missense variant	-	NC_000004.12:g.5446691T>C	TOPMed
rs1330532635	p.Val194Leu	missense variant	-	NC_000004.12:g.5446690G>T	TOPMed
rs771706652	p.Tyr195Cys	missense variant	-	NC_000004.12:g.5446694A>G	ExAC,TOPMed,gnomAD
rs746790200	p.Met196Leu	missense variant	-	NC_000004.12:g.5446696A>T	ExAC,TOPMed,gnomAD
rs868616705	p.Asp197Asn	missense variant	-	NC_000004.12:g.5446699G>A	TOPMed,gnomAD
rs868616705	p.Asp197His	missense variant	-	NC_000004.12:g.5446699G>C	TOPMed,gnomAD
rs776507984	p.Arg198Thr	missense variant	-	NC_000004.12:g.5446703G>C	ExAC,gnomAD
rs3733182	p.Arg198Gly	missense variant	-	NC_000004.12:g.5446702A>G	UniProt,dbSNP
VAR_025899	p.Arg198Gly	missense variant	-	NC_000004.12:g.5446702A>G	UniProt
rs3733182	p.Arg198Gly	missense variant	-	NC_000004.12:g.5446702A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs909277107	p.Gly199Asp	missense variant	-	NC_000004.12:g.5446706G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Pro200Leu	missense variant	-	NC_000004.12:g.5446709C>T	NCI-TCGA
rs1296140074	p.Pro200Arg	missense variant	-	NC_000004.12:g.5446709C>G	gnomAD
rs767862829	p.Gly201Arg	missense variant	-	NC_000004.12:g.5446711G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly201Glu	missense variant	-	NC_000004.12:g.5446712G>A	NCI-TCGA
rs767862829	p.Gly201Arg	missense variant	-	NC_000004.12:g.5446711G>C	ExAC,TOPMed,gnomAD
rs1282323915	p.Tyr202His	missense variant	-	NC_000004.12:g.5446714T>C	gnomAD
rs1326373944	p.Tyr202Cys	missense variant	-	NC_000004.12:g.5446715A>G	TOPMed,gnomAD
rs939472463	p.Ser203Leu	missense variant	-	NC_000004.12:g.5446718C>T	TOPMed,gnomAD
rs751767372	p.Pro205Ser	missense variant	-	NC_000004.12:g.5446723C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro205His	missense variant	-	NC_000004.12:g.5446724C>A	NCI-TCGA
rs762123143	p.Pro205Arg	missense variant	-	NC_000004.12:g.5446724C>G	ExAC,gnomAD
rs1448109220	p.Val206Ile	missense variant	-	NC_000004.12:g.5446726G>A	gnomAD
rs750813196	p.Asp207Asn	missense variant	-	NC_000004.12:g.5446729G>A	ExAC,TOPMed,gnomAD
rs756546346	p.Asp207Val	missense variant	-	NC_000004.12:g.5446730A>T	ExAC,gnomAD
rs780603497	p.Trp208Cys	missense variant	-	NC_000004.12:g.5446734G>T	ExAC,gnomAD
rs1357887354	p.Trp208Arg	missense variant	-	NC_000004.12:g.5446732T>C	gnomAD
rs1169035917	p.Trp209Arg	missense variant	-	NC_000004.12:g.5446735T>C	gnomAD
rs752188160	p.Ser210Phe	missense variant	-	NC_000004.12:g.5446739C>T	ExAC,TOPMed,gnomAD
rs1051091503	p.Ile213Met	missense variant	-	NC_000004.12:g.5446749C>G	TOPMed
rs777375854	p.Ile213Val	missense variant	-	NC_000004.12:g.5446747A>G	ExAC,gnomAD
rs770632283	p.Ala215Asp	missense variant	-	NC_000004.12:g.5446754C>A	ExAC,TOPMed,gnomAD
rs1049312912	p.Tyr216Cys	missense variant	-	NC_000004.12:g.5446757A>G	-
rs1159886026	p.Glu217Ter	stop gained	-	NC_000004.12:g.5446759G>T	TOPMed
rs1432601507	p.Leu218Pro	missense variant	-	NC_000004.12:g.5446763T>C	gnomAD
rs373843574	p.Arg220Gln	missense variant	-	NC_000004.12:g.5446769G>A	ESP,ExAC,TOPMed,gnomAD
rs745729733	p.Arg220Trp	missense variant	-	NC_000004.12:g.5446768C>T	ExAC,TOPMed,gnomAD
rs775620532	p.Gly221Cys	missense variant	-	NC_000004.12:g.5446771G>T	ExAC,TOPMed,gnomAD
rs775620532	p.Gly221Ser	missense variant	-	NC_000004.12:g.5446771G>A	ExAC,TOPMed,gnomAD
rs200741998	p.Pro224Leu	missense variant	-	NC_000004.12:g.5456811C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200741998	p.Pro224Arg	missense variant	-	NC_000004.12:g.5456811C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs776978325	p.Tyr225Ter	stop gained	-	NC_000004.12:g.5456815C>G	ExAC,TOPMed,gnomAD
rs1315433083	p.Tyr225Phe	missense variant	-	NC_000004.12:g.5456814A>T	TOPMed
rs149571946	p.Glu226Lys	missense variant	-	NC_000004.12:g.5456816G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371821989	p.His228Asp	missense variant	-	NC_000004.12:g.5456822C>G	ESP,ExAC,TOPMed,gnomAD
rs955790754	p.Ser229Leu	missense variant	-	NC_000004.12:g.5456826C>T	TOPMed
rs1264318973	p.Val230Ile	missense variant	-	NC_000004.12:g.5456828G>A	gnomAD
rs61729663	p.Val230Ala	missense variant	-	NC_000004.12:g.5456829T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1202515538	p.Thr231Met	missense variant	-	NC_000004.12:g.5456832C>T	gnomAD
rs767083865	p.Pro232Leu	missense variant	-	NC_000004.12:g.5456835C>T	ExAC,TOPMed,gnomAD
rs766199227	p.Ile233Met	missense variant	-	NC_000004.12:g.5456839C>G	ExAC,TOPMed,gnomAD
rs200308383	p.Ile233Val	missense variant	-	NC_000004.12:g.5456837A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs200308383	p.Ile233Phe	missense variant	-	NC_000004.12:g.5456837A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1178245103	p.Asp234Asn	missense variant	-	NC_000004.12:g.5456840G>A	TOPMed,gnomAD
rs1365190294	p.Ile236Phe	missense variant	-	NC_000004.12:g.5456846A>T	gnomAD
rs753559150	p.Asn238His	missense variant	-	NC_000004.12:g.5456852A>C	ExAC,gnomAD
rs1469186556	p.Asn238Ser	missense variant	-	NC_000004.12:g.5456853A>G	TOPMed,gnomAD
rs148677817	p.Met239Val	missense variant	-	NC_000004.12:g.5456855A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys241Asn	missense variant	-	NC_000004.12:g.5456863G>T	NCI-TCGA
rs143492079	p.Val242Met	missense variant	-	NC_000004.12:g.5456864G>A	ESP,gnomAD
rs35207488	p.Arg244His	missense variant	-	NC_000004.12:g.5456871G>A	ESP,ExAC,gnomAD
rs35207488	p.Arg244His	missense variant	-	NC_000004.12:g.5456871G>A	UniProt,dbSNP
VAR_041167	p.Arg244His	missense variant	-	NC_000004.12:g.5456871G>A	UniProt
rs371768913	p.Arg244Cys	missense variant	-	NC_000004.12:g.5456870C>T	ESP,ExAC,TOPMed,gnomAD
rs371768913	p.Arg244Ser	missense variant	-	NC_000004.12:g.5456870C>A	ESP,ExAC,TOPMed,gnomAD
rs917967915	p.His246Gln	missense variant	-	NC_000004.12:g.5456878C>G	TOPMed,gnomAD
rs747160240	p.His246Arg	missense variant	-	NC_000004.12:g.5456877A>G	ExAC,TOPMed,gnomAD
rs936223001	p.His246Tyr	missense variant	-	NC_000004.12:g.5456876C>T	TOPMed
COSM4125114	p.Tyr247His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5456879T>C	NCI-TCGA Cosmic
rs781445086	p.Ser248Phe	missense variant	-	NC_000004.12:g.5456883C>T	ExAC,TOPMed,gnomAD
rs781445086	p.Ser248Tyr	missense variant	-	NC_000004.12:g.5456883C>A	ExAC,TOPMed,gnomAD
rs575973493	p.Ser248Pro	missense variant	-	NC_000004.12:g.5456882T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs746192191	p.Ser249Phe	missense variant	-	NC_000004.12:g.5456886C>T	ExAC,gnomAD
rs1249392867	p.Thr250Ala	missense variant	-	NC_000004.12:g.5456888A>G	TOPMed,gnomAD
rs541708015	p.Thr250Arg	missense variant	-	NC_000004.12:g.5456889C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1249392867	p.Thr250Pro	missense variant	-	NC_000004.12:g.5456888A>C	TOPMed,gnomAD
rs541708015	p.Thr250Met	missense variant	-	NC_000004.12:g.5456889C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1180104072	p.Trp251Arg	missense variant	-	NC_000004.12:g.5456891T>A	TOPMed
rs1269396867	p.Cys252Ser	missense variant	-	NC_000004.12:g.5456895G>C	gnomAD
rs769289357	p.Gly254Ala	missense variant	-	NC_000004.12:g.5456901G>C	ExAC,gnomAD
rs1001964583	p.Met255Ile	missense variant	-	NC_000004.12:g.5456905G>C	TOPMed
rs772843056	p.Met255Thr	missense variant	-	NC_000004.12:g.5456904T>C	ExAC,gnomAD
rs1462573997	p.Val256Met	missense variant	-	NC_000004.12:g.5456906G>A	gnomAD
COSM1430102	p.Ala257Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5456909G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala257Gly	missense variant	-	NC_000004.12:g.5456910C>G	NCI-TCGA
rs767573014	p.Leu262Phe	missense variant	-	NC_000004.12:g.5460103C>T	ExAC,gnomAD
rs750469503	p.Thr264Ile	missense variant	-	NC_000004.12:g.5460110C>T	ExAC,gnomAD
rs750469503	p.Thr264Ser	missense variant	-	NC_000004.12:g.5460110C>G	ExAC,gnomAD
rs200072965	p.Lys265Arg	missense variant	-	NC_000004.12:g.5460113A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys265ArgPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.5460110C>-	NCI-TCGA
rs1253743392	p.Asp266Val	missense variant	-	NC_000004.12:g.5460116A>T	TOPMed
rs1483984721	p.Asp266Tyr	missense variant	-	NC_000004.12:g.5460115G>T	TOPMed
rs375739358	p.Pro267Ser	missense variant	-	NC_000004.12:g.5460118C>T	ESP,ExAC,TOPMed,gnomAD
rs146714972	p.Glu268Lys	missense variant	-	NC_000004.12:g.5460121G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748608814	p.Ser269Asn	missense variant	-	NC_000004.12:g.5460125G>A	ExAC,gnomAD
rs201405239	p.Arg270His	missense variant	-	NC_000004.12:g.5460128G>A	ExAC,TOPMed,gnomAD
rs772462903	p.Arg270Cys	missense variant	-	NC_000004.12:g.5460127C>T	ExAC,gnomAD
rs369572115	p.Val271Met	missense variant	-	NC_000004.12:g.5460130G>A	ESP,ExAC,TOPMed,gnomAD
rs775048920	p.Ser272Pro	missense variant	-	NC_000004.12:g.5460133T>C	ExAC,gnomAD
rs1408968323	p.His275Arg	missense variant	-	NC_000004.12:g.5460143A>G	gnomAD
NCI-TCGA novel	p.Asp276Gly	missense variant	-	NC_000004.12:g.5460146A>G	NCI-TCGA
COSM481336	p.Ile277Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5460149T>C	NCI-TCGA Cosmic
rs1432121776	p.Ser279Thr	missense variant	-	NC_000004.12:g.5460155G>C	gnomAD
rs369116885	p.Val280Leu	missense variant	-	NC_000004.12:g.5460157G>C	ESP,ExAC,gnomAD
rs369116885	p.Val280Met	missense variant	-	NC_000004.12:g.5460157G>A	ESP,ExAC,gnomAD
rs762431140	p.Pro281Ser	missense variant	-	NC_000004.12:g.5460160C>T	TOPMed
COSM3974936	p.Tyr282Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.5460165C>G	NCI-TCGA Cosmic
rs1299582035	p.Leu283Ser	missense variant	-	NC_000004.12:g.5460167T>C	gnomAD
rs748590636	p.Asp285Gly	missense variant	-	NC_000004.12:g.5460173A>G	ExAC
rs553561922	p.Asp285Tyr	missense variant	-	NC_000004.12:g.5460172G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs553561922	p.Asp285Asn	missense variant	-	NC_000004.12:g.5460172G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs377258998	p.Met286Arg	missense variant	-	NC_000004.12:g.5460176T>G	ESP,ExAC,gnomAD
rs778195141	p.Met286Ile	missense variant	-	NC_000004.12:g.5460177G>C	ExAC,gnomAD
rs1277827028	p.Asn287His	missense variant	-	NC_000004.12:g.5460178A>C	gnomAD
rs745354091	p.Trp288Cys	missense variant	-	NC_000004.12:g.5460183G>C	ExAC,TOPMed,gnomAD
rs200401928	p.Asp289Glu	missense variant	-	NC_000004.12:g.5460186C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs150966427	p.Ala290Val	missense variant	-	NC_000004.12:g.5460188C>T	ESP,ExAC,TOPMed,gnomAD
rs144030427	p.Ala290Thr	missense variant	-	NC_000004.12:g.5460187G>A	ESP,ExAC,TOPMed,gnomAD
rs1034731914	p.Phe292Leu	missense variant	-	NC_000004.12:g.5460195C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Phe292Leu	missense variant	-	NC_000004.12:g.5460195C>A	NCI-TCGA
rs773060917	p.Ala295Thr	missense variant	-	NC_000004.12:g.5460202G>A	ExAC,TOPMed,gnomAD
rs545552601	p.Leu296Val	missense variant	-	NC_000004.12:g.5460205C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs935407742	p.Met297Ile	missense variant	-	NC_000004.12:g.5460210G>A	TOPMed
rs766321055	p.Pro298Arg	missense variant	-	NC_000004.12:g.5460212C>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro298Ser	missense variant	-	NC_000004.12:g.5460211C>T	NCI-TCGA
rs759834980	p.Gly299Ser	missense variant	-	NC_000004.12:g.5460214G>A	ExAC,TOPMed,gnomAD
rs150100756	p.Gly299Ala	missense variant	-	NC_000004.12:g.5460215G>C	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Phe300Ser	missense variant	-	NC_000004.12:g.5460218T>C	NCI-TCGA
rs1347242822	p.Val301Leu	missense variant	-	NC_000004.12:g.5460220G>T	gnomAD
rs778234564	p.Asn303Ser	missense variant	-	NC_000004.12:g.5460227A>G	ExAC,TOPMed,gnomAD
rs1274196930	p.Asn303His	missense variant	-	NC_000004.12:g.5460226A>C	gnomAD
rs754519901	p.Lys304Ile	missense variant	-	NC_000004.12:g.5466704A>T	ExAC,TOPMed,gnomAD
rs937802683	p.Lys304Asn	missense variant	-	NC_000004.12:g.5466705A>C	TOPMed
rs1162259500	p.Arg306Lys	missense variant	-	NC_000004.12:g.5466710G>A	gnomAD
rs747704616	p.Arg306Ser	missense variant	-	NC_000004.12:g.5466711G>T	ExAC,TOPMed,gnomAD
rs1402228525	p.Leu307Met	missense variant	-	NC_000004.12:g.5466712T>A	gnomAD
rs1187248021	p.Asn308His	missense variant	-	NC_000004.12:g.5466715A>C	TOPMed
rs56259884	p.Asp310Gly	missense variant	-	NC_000004.12:g.5466722A>G	TOPMed
rs746880267	p.Asp310Asn	missense variant	-	NC_000004.12:g.5466721G>A	ExAC,TOPMed,gnomAD
rs56259884	p.Asp310Val	missense variant	-	NC_000004.12:g.5466722A>T	TOPMed
rs746880267	p.Asp310Tyr	missense variant	-	NC_000004.12:g.5466721G>T	ExAC,TOPMed,gnomAD
rs1338732338	p.Pro311Ala	missense variant	-	NC_000004.12:g.5466724C>G	gnomAD
rs1244393797	p.Phe313Val	missense variant	-	NC_000004.12:g.5466730T>G	gnomAD
COSM734186	p.Glu314Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5466733G>A	NCI-TCGA Cosmic
rs1282641396	p.Glu314Asp	missense variant	-	NC_000004.12:g.5466735G>T	gnomAD
NCI-TCGA novel	p.Glu317Asp	missense variant	-	NC_000004.12:g.5466744G>T	NCI-TCGA
NCI-TCGA novel	p.Glu317Ter	stop gained	-	NC_000004.12:g.5466742G>T	NCI-TCGA
rs1224629488	p.Leu320Ile	missense variant	-	NC_000004.12:g.5466751C>A	gnomAD
COSM734185	p.Glu321Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5466754G>C	NCI-TCGA Cosmic
rs775656196	p.Pro324Leu	missense variant	-	NC_000004.12:g.5466764C>T	ExAC,TOPMed,gnomAD
rs769949140	p.Pro324Ser	missense variant	-	NC_000004.12:g.5466763C>T	ExAC,TOPMed,gnomAD
COSM4125117	p.Leu325Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5466766C>A	NCI-TCGA Cosmic
rs1416721924	p.Leu325Phe	missense variant	-	NC_000004.12:g.5466766C>T	gnomAD
NCI-TCGA novel	p.His326Arg	missense variant	-	NC_000004.12:g.5466770A>G	NCI-TCGA
NCI-TCGA novel	p.Lys328Asn	missense variant	-	NC_000004.12:g.5466777G>T	NCI-TCGA
rs190741865	p.Lys330Gln	missense variant	-	NC_000004.12:g.5466781A>C	1000Genomes,ExAC,gnomAD
rs1159536062	p.Arg331Ter	stop gained	-	NC_000004.12:g.5466784C>T	gnomAD
rs1411185210	p.Arg331Gln	missense variant	-	NC_000004.12:g.5466785G>A	TOPMed,gnomAD
rs1455625517	p.Ala333Thr	missense variant	-	NC_000004.12:g.5466790G>A	gnomAD
COSM1056024	p.Lys334Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5466795G>T	NCI-TCGA Cosmic
rs574395382	p.Asn335Ser	missense variant	-	NC_000004.12:g.5466797A>G	1000Genomes,TOPMed,gnomAD
rs574395382	p.Asn335Thr	missense variant	-	NC_000004.12:g.5466797A>C	1000Genomes,TOPMed,gnomAD
COSM1056025	p.Arg336Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5466800G>T	NCI-TCGA Cosmic
rs762211636	p.Ser337Phe	missense variant	-	NC_000004.12:g.5466803C>T	ExAC,TOPMed,gnomAD
COSM1310126	p.Arg338Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5466806G>A	NCI-TCGA Cosmic
rs767977596	p.Gly340Asp	missense variant	-	NC_000004.12:g.5466812G>A	ExAC,gnomAD
rs1332455670	p.Lys342Glu	missense variant	-	NC_000004.12:g.5466817A>G	gnomAD
rs55961955	p.Lys342Thr	missense variant	-	NC_000004.12:g.5466818A>C	-
rs55961955	p.Lys342Thr	missense variant	-	NC_000004.12:g.5466818A>C	UniProt,dbSNP
VAR_041169	p.Lys342Thr	missense variant	-	NC_000004.12:g.5466818A>C	UniProt
NCI-TCGA novel	p.Asp343Gly	missense variant	-	NC_000004.12:g.5466821A>G	NCI-TCGA
rs750888252	p.Cys345Tyr	missense variant	-	NC_000004.12:g.5466827G>A	ExAC,gnomAD
rs146908689	p.Pro346Leu	missense variant	-	NC_000004.12:g.5466830C>T	ESP,ExAC,gnomAD
rs146908689	p.Pro346Gln	missense variant	-	NC_000004.12:g.5466830C>A	ESP,ExAC,gnomAD
rs1368885196	p.Gly349Arg	missense variant	-	NC_000004.12:g.5468009G>A	gnomAD
rs369734413	p.His350Tyr	missense variant	-	NC_000004.12:g.5468012C>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.His350Arg	missense variant	-	NC_000004.12:g.5468013A>G	NCI-TCGA
rs749299468	p.Leu351Met	missense variant	-	NC_000004.12:g.5468015C>A	ExAC,gnomAD
rs768744752	p.Leu351Pro	missense variant	-	NC_000004.12:g.5468016T>C	ExAC,gnomAD
rs953423621	p.Gln352Ter	stop gained	-	NC_000004.12:g.5468018C>T	TOPMed,gnomAD
rs953423621	p.Gln352Lys	missense variant	-	NC_000004.12:g.5468018C>A	TOPMed,gnomAD
rs778884009	p.His353Arg	missense variant	-	NC_000004.12:g.5468022A>G	ExAC,gnomAD
rs747179105	p.Cys354Tyr	missense variant	-	NC_000004.12:g.5468025G>A	ExAC,gnomAD
rs772287124	p.Leu355Trp	missense variant	-	NC_000004.12:g.5468028T>G	ExAC,gnomAD
rs773562843	p.Glu356Lys	missense variant	-	NC_000004.12:g.5468030G>A	ExAC,gnomAD
NCI-TCGA novel	p.Thr357Asn	missense variant	-	NC_000004.12:g.5468034C>A	NCI-TCGA
rs761076752	p.Arg359Trp	missense variant	-	NC_000004.12:g.5468039C>T	ExAC,TOPMed,gnomAD
rs771310611	p.Arg359Gln	missense variant	-	NC_000004.12:g.5468040G>A	ExAC,TOPMed,gnomAD
rs761076752	p.Arg359Gly	missense variant	-	NC_000004.12:g.5468039C>G	ExAC,TOPMed,gnomAD
rs777155245	p.Glu360Asp	missense variant	-	NC_000004.12:g.5468044G>T	ExAC,TOPMed,gnomAD
COSM4125119	p.Phe362Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5468050C>A	NCI-TCGA Cosmic
rs574913570	p.Ile363Met	missense variant	-	NC_000004.12:g.5468053C>G	1000Genomes,gnomAD
rs759980875	p.Ile363Val	missense variant	-	NC_000004.12:g.5468051A>G	ExAC
rs139218892	p.Ile364Val	missense variant	-	NC_000004.12:g.5468054A>G	ESP,ExAC,TOPMed,gnomAD
rs1263745845	p.Asn366Ser	missense variant	-	NC_000004.12:g.5468061A>G	gnomAD
rs751115471	p.Asn366His	missense variant	-	NC_000004.12:g.5468060A>C	ExAC,TOPMed
rs761548649	p.Arg367Lys	missense variant	-	NC_000004.12:g.5468064G>A	ExAC,gnomAD
COSM129476	p.Glu368Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5468066G>A	NCI-TCGA Cosmic
rs1388579198	p.Glu368Ala	missense variant	-	NC_000004.12:g.5468067A>C	gnomAD
NCI-TCGA novel	p.Glu368Asp	missense variant	-	NC_000004.12:g.5468068G>T	NCI-TCGA
rs1187927723	p.Glu368Ter	stop gained	-	NC_000004.12:g.5468066G>T	gnomAD
NCI-TCGA novel	p.Lys369Thr	missense variant	-	NC_000004.12:g.5468070A>C	NCI-TCGA
rs752741978	p.Leu370Phe	missense variant	-	NC_000004.12:g.5498946C>T	ExAC,gnomAD
rs551254643	p.Leu370Pro	missense variant	-	NC_000004.12:g.5498947T>C	1000Genomes,ExAC,gnomAD
rs747195248	p.Arg372Lys	missense variant	-	NC_000004.12:g.5498953G>A	ExAC,gnomAD
rs1482371691	p.Gln374His	missense variant	-	NC_000004.12:g.5498960G>C	gnomAD
rs564786429	p.Gly375Arg	missense variant	-	NC_000004.12:g.5498961G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1253040509	p.Gly375Ala	missense variant	-	NC_000004.12:g.5498962G>C	gnomAD
rs564786429	p.Gly375Arg	missense variant	-	NC_000004.12:g.5498961G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1180717811	p.Gln376Ter	stop gained	-	NC_000004.12:g.5498964C>T	gnomAD
rs1432007865	p.Gly377Asp	missense variant	-	NC_000004.12:g.5498968G>A	gnomAD
rs771663015	p.Gln379Pro	missense variant	-	NC_000004.12:g.5498974A>C	ExAC,gnomAD
rs1405374914	p.Leu380Arg	missense variant	-	NC_000004.12:g.5498977T>G	gnomAD
rs1309433544	p.Leu380Val	missense variant	-	NC_000004.12:g.5498976C>G	gnomAD
rs1219913536	p.Asp384Asn	missense variant	-	NC_000004.12:g.5498988G>A	TOPMed,gnomAD
rs200454551	p.Asp384Ala	missense variant	-	NC_000004.12:g.5498989A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs752580455	p.Ser385Gly	missense variant	-	NC_000004.12:g.5498991A>G	ExAC,gnomAD
rs758344233	p.Arg386Ter	stop gained	-	NC_000004.12:g.5498994C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg386Leu	missense variant	-	NC_000004.12:g.5498995G>T	NCI-TCGA
rs367898855	p.Arg386Gln	missense variant	-	NC_000004.12:g.5498995G>A	ESP,ExAC,TOPMed,gnomAD
rs183352474	p.Gly387Val	missense variant	-	NC_000004.12:g.5498998G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148124898	p.Gly387Arg	missense variant	-	NC_000004.12:g.5498997G>A	ESP,ExAC,TOPMed,gnomAD
rs183352474	p.Gly387Ala	missense variant	-	NC_000004.12:g.5498998G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148124898	p.Gly387Arg	missense variant	-	NC_000004.12:g.5498997G>C	ESP,ExAC,TOPMed,gnomAD
rs148124898	p.Gly387Trp	missense variant	-	NC_000004.12:g.5498997G>T	ESP,ExAC,TOPMed,gnomAD
rs780591699	p.Gly389Ser	missense variant	-	NC_000004.12:g.5499003G>A	ExAC,gnomAD
rs61729661	p.Gln390Lys	missense variant	-	NC_000004.12:g.5499006C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772845296	p.Gln390Leu	missense variant	-	NC_000004.12:g.5499007A>T	ExAC,TOPMed,gnomAD
rs772845296	p.Gln390Arg	missense variant	-	NC_000004.12:g.5499007A>G	ExAC,TOPMed,gnomAD
rs61729661	p.Gln390Glu	missense variant	-	NC_000004.12:g.5499006C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772845296	p.Gln390Pro	missense variant	-	NC_000004.12:g.5499007A>C	ExAC,TOPMed,gnomAD
rs1229495142	p.Ala391Thr	missense variant	-	NC_000004.12:g.5499009G>A	TOPMed
NCI-TCGA novel	p.Gln392Lys	missense variant	-	NC_000004.12:g.5499012C>A	NCI-TCGA
rs150603763	p.Ser393Asn	missense variant	-	NC_000004.12:g.5499016G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759254514	p.Lys394Thr	missense variant	-	NC_000004.12:g.5499019A>C	ExAC,gnomAD
rs1370721774	p.Gln396His	missense variant	-	NC_000004.12:g.5499026G>C	gnomAD
rs141748481	p.Asp397Glu	missense variant	-	NC_000004.12:g.5499029C>G	ESP,ExAC,TOPMed,gnomAD
rs764952793	p.Asp397Asn	missense variant	-	NC_000004.12:g.5499027G>A	ExAC,gnomAD
rs1437158176	p.Gly398Glu	missense variant	-	NC_000004.12:g.5499031G>A	TOPMed,gnomAD
rs558465928	p.Gly398Arg	missense variant	-	NC_000004.12:g.5499030G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs558465928	p.Gly398Arg	missense variant	-	NC_000004.12:g.5499030G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1437158176	p.Gly398Ala	missense variant	-	NC_000004.12:g.5499031G>C	TOPMed,gnomAD
rs141820982	p.Cys399Trp	missense variant	-	NC_000004.12:g.5499035C>G	ESP,ExAC,TOPMed,gnomAD
rs146281109	p.Asn400Ser	missense variant	-	NC_000004.12:g.5499037A>G	ESP,ExAC,gnomAD
rs750565683	p.Asn402His	missense variant	-	NC_000004.12:g.5499042A>C	ExAC,TOPMed,gnomAD
rs756421946	p.Asn402Ser	missense variant	-	NC_000004.12:g.5499043A>G	ExAC,TOPMed,gnomAD
rs780502045	p.Leu403Ile	missense variant	-	NC_000004.12:g.5499045C>A	ExAC,gnomAD
rs754322386	p.Leu403Arg	missense variant	-	NC_000004.12:g.5499046T>G	ExAC,gnomAD
rs1473666662	p.Leu404His	missense variant	-	NC_000004.12:g.5499049T>A	TOPMed
rs980460562	p.Thr405Ala	missense variant	-	NC_000004.12:g.5499051A>G	TOPMed
rs755530371	p.Thr405Asn	missense variant	-	NC_000004.12:g.5499052C>A	ExAC
NCI-TCGA novel	p.His406Tyr	missense variant	-	NC_000004.12:g.5499054C>T	NCI-TCGA
rs889191611	p.Thr407Ile	missense variant	-	NC_000004.12:g.5499058C>T	TOPMed
rs1254143379	p.Thr407Ser	missense variant	-	NC_000004.12:g.5499057A>T	TOPMed
rs746497893	p.Cys408Arg	missense variant	-	NC_000004.12:g.5499060T>C	ExAC,gnomAD
rs1358915442	p.Thr409Ser	missense variant	-	NC_000004.12:g.5499063A>T	TOPMed
rs375434120	p.Thr409Ile	missense variant	-	NC_000004.12:g.5499064C>T	ESP,ExAC,TOPMed,gnomAD
rs769500569	p.Arg410Gly	missense variant	-	NC_000004.12:g.5499066C>G	ExAC,TOPMed,gnomAD
rs769500569	p.Arg410Ser	missense variant	-	NC_000004.12:g.5499066C>A	ExAC,TOPMed,gnomAD
rs769500569	p.Arg410Cys	missense variant	-	NC_000004.12:g.5499066C>T	ExAC,TOPMed,gnomAD
rs768546143	p.Arg410His	missense variant	-	NC_000004.12:g.5499067G>A	ExAC,TOPMed,gnomAD
rs761837571	p.Cys412Ter	stop gained	-	NC_000004.12:g.5499074C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ter415SerGluUnkThrTerUnkUnk	stop lost	-	NC_000004.12:g.5499082G>C	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002395	Alzheimer's Disease	disease	GWASCAT;GWASDB
C0010068	Coronary heart disease	disease	GWASDB
C0013903	Ellis-Van Creveld Syndrome	disease	BEFREE
C0026106	Mild Mental Retardation	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0270736	Essential Tremor	disease	GWASCAT
C0278883	Metastatic melanoma	disease	UNIPROT
C0585362	Squamous cell carcinoma of mouth	disease	BEFREE
C0810364	Cleft Lip with or without Cleft Palate	disease	BEFREE
C1611184	Calcification of coronary artery	phenotype	GWASDB

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004674	protein serine/threonine kinase activity	IBA
GO:0005524	ATP binding	IEA
GO:0046872	metal ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0018105	peptidyl-serine phosphorylation	IBA
GO:0035556	intracellular signal transduction	IBA

GO:Cellular Component

GO ID	GO Term	Evidence

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in increased expression of STK32B mRNA	30723492
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of STK32B mRNA	18648102
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in increased expression of STK32B mRNA	20382639
D020106	Acrylamide	Acrylamide results in decreased expression of STK32B mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of STK32B intron	30157460
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of STK32B intron	30157460
D001280	Atrazine	Atrazine results in increased expression of STK32B mRNA	22378314
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of STK32B intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of STK32B mRNA	22228805
C026487	benzo(e)pyrene	benzo(e)pyrene results in increased methylation of STK32B intron	30157460
C006780	bisphenol A	bisphenol A results in decreased expression of STK32B mRNA	25181051
D019256	Cadmium Chloride	Cadmium Chloride results in increased methylation of STK32B promoter	22457795
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of STK32B mRNA	27392435
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of STK32B mRNA	19320972
D004041	Dietary Fats	Dietary Fats results in increased expression of STK32B mRNA	25016146
C558012	diisononyl 1,2-cyclohexanedicarboxylic acid	diisononyl 1,2-cyclohexanedicarboxylic acid results in decreased expression of STK32B mRNA	29945229
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of STK32B mRNA	27392435
D008701	Methapyrilene	Methapyrilene results in increased methylation of STK32B intron	30157460
D052638	Particulate Matter	Particulate Matter results in increased expression of STK32B mRNA	22178795
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of STK32B mRNA	28511854
D011441	Propylthiouracil	Propylthiouracil results in increased expression of STK32B mRNA	24780913
C017947	sodium arsenite	sodium arsenite affects the expression of STK32B mRNA	29319823
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of STK32B mRNA	21570461
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased methylation of STK32B gene	26756918
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of STK32B gene	25560391
C029297	vinylidene chloride	vinylidene chloride results in decreased expression of STK32B mRNA	26682919
D000077211	Zoledronic Acid	Zoledronic Acid results in decreased expression of STK32B mRNA	24714768

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0067	ATP-binding
KW-0418	Kinase
KW-0460	Magnesium
KW-0479	Metal-binding
KW-0547	Nucleotide-binding
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0723	Serine/threonine-protein kinase
KW-0808	Transferase

Interpro

InterPro ID	InterPro Term
IPR011009	Kinase-like_dom_sf
IPR000719	Prot_kinase_dom
IPR017441	Protein_kinase_ATP_BS
IPR008271	Ser/Thr_kinase_AS

PROSITE

PROSITE ID	PROSITE Term
PS00107	PROTEIN_KINASE_ATP
PS50011	PROTEIN_KINASE_DOM
PS00108	PROTEIN_KINASE_ST

Pfam

Pfam ID	Pfam Term
PF00069	Pkinase

Gene: STK32B

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