CleftGeneDB-Search

Gene: PRSS35

Basic information

Tag	Content
Uniprot ID	Q8N3Z0; A8K7B3; Q9BQP6;
Entrez ID	167681
Genbank protein ID	BAF84617.1; AAH37170.1; EAW48663.1; AAQ89024.1;
Genbank nucleotide ID	NM_153362.2; NM_001170423.1;
Ensembl protein ID	ENSP00000358714
Ensembl nucleotide ID	ENSG00000146250
Gene name	Inactive serine protease 35
Gene symbol	PRSS35
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26602496
Functional description
Sequence	MENMLLWLIF FTPGWTLIDG SEMEWDFMWH LRKVPRIVSE RTFHLTSPAF EADAKMMVNT 60 VCGIECQKEL PTPSLSELED YLSYETVFEN GTRTLTRVKV QDLVLEPTQN ITTKGVSVRR 120 KRQVYGTDSR FSILDKRFLT NFPFSTAVKL STGCSGILIS PQHVLTAAHC VHDGKDYVKG 180 SKKLRVGLLK MRNKSGGKKR RGSKRSRREA SGGDQREGTR EHLRERAKGG RRRKKSGRGQ 240 RIAEGRPSFQ WTRVKNTHIP KGWARGGMGD ATLDYDYALL ELKRAHKKKY MELGISPTIK 300 KMPGGMIHFS GFDNDRADQL VYRFCSVSDE SNDLLYQYCD AESGSTGSGV YLRLKDPDKK 360 NWKRKIIAVY SGHQWVDVHG VQKDYNVAVR ITPLKYAQIC LWIHGNDANC AYG 413

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	Developmental stage	Species	Evidence	Details
1:1 ortholog	PRSS35	614940	Q5E9X7		Bos taurus	Prediction	More>>
1:1 ortholog	PRSS35	102177164	A0A452E812		Capra hircus	Prediction	More>>
1:1 ortholog	PRSS35	100065435	F6X7M4		Equus caballus	Prediction	More>>
1:1 ortholog	PRSS35	167681	Q8N3Z0		Homo sapiens	Publication	More>>
1:1 ortholog	Prss35	244954	Q8C0F9	E12.0, E13.0, E14.0, E14.5	Mus musculus	Prediction	More>>
1:1 ortholog	PRSS35	472062	H2QTC3		Pan troglodytes	Prediction	More>>
1:1 ortholog	PRSS35		F1RQM7		Sus scrofa	Prediction	More>>
1:1 ortholog	PRSS35	100355702	G1TSZ4		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Prss35	315866	F1LLW4		Rattus norvegicus	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
PRSS35	rs512140*A	Genotyping	26602496

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
NCI-TCGA novel	p.Glu2Gly	missense variant	-	NC_000006.12:g.83523446A>G	NCI-TCGA
rs368986869	p.Asn3Ser	missense variant	-	NC_000006.12:g.83523449A>G	ESP,ExAC
rs1230429981	p.Asn3Tyr	missense variant	-	NC_000006.12:g.83523448A>T	TOPMed
rs745442961	p.Met4Ile	missense variant	-	NC_000006.12:g.83523453G>A	ExAC,gnomAD
rs1326556100	p.Leu5Pro	missense variant	-	NC_000006.12:g.83523455T>C	TOPMed,gnomAD
rs540921970	p.Trp7Ter	stop gained	-	NC_000006.12:g.83523462G>A	ExAC,TOPMed,gnomAD
rs942802064	p.Trp7Leu	missense variant	-	NC_000006.12:g.83523461G>T	TOPMed
rs540921970	p.Trp7Cys	missense variant	-	NC_000006.12:g.83523462G>C	ExAC,TOPMed,gnomAD
rs540921970	p.Trp7Ter	stop gained	-	NC_000006.12:g.83523462G>A	NCI-TCGA
rs1342714338	p.Ile9Thr	missense variant	-	NC_000006.12:g.83523467T>C	TOPMed
rs1335285517	p.Ile9Met	missense variant	-	NC_000006.12:g.83523468A>G	TOPMed
rs538170279	p.Phe10Ser	missense variant	-	NC_000006.12:g.83523470T>C	1000Genomes,ExAC,gnomAD
rs1442395152	p.Phe11Ser	missense variant	-	NC_000006.12:g.83523473T>C	gnomAD
NCI-TCGA novel	p.Phe11Val	missense variant	-	NC_000006.12:g.83523472T>G	NCI-TCGA
rs372948717	p.Thr12Ile	missense variant	-	NC_000006.12:g.83523476C>T	ESP,ExAC,TOPMed,gnomAD
rs372948717	p.Thr12Asn	missense variant	-	NC_000006.12:g.83523476C>A	ESP,ExAC,TOPMed,gnomAD
rs992724872	p.Pro13Thr	missense variant	-	NC_000006.12:g.83523478C>A	TOPMed,gnomAD
rs1334326979	p.Gly14Glu	missense variant	-	NC_000006.12:g.83523482G>A	TOPMed
NCI-TCGA novel	p.Thr16Ala	missense variant	-	NC_000006.12:g.83523487A>G	NCI-TCGA
rs1481534780	p.Ile18Thr	missense variant	-	NC_000006.12:g.83523494T>C	gnomAD
rs766481718	p.Ser21Thr	missense variant	-	NC_000006.12:g.83523502T>A	ExAC,gnomAD
rs751533715	p.Glu22Gln	missense variant	-	NC_000006.12:g.83523505G>C	ExAC,gnomAD
rs751533715	p.Glu22Gln	missense variant	-	NC_000006.12:g.83523505G>C	NCI-TCGA,NCI-TCGA Cosmic
rs755245905	p.Trp25Gly	missense variant	-	NC_000006.12:g.83523514T>G	ExAC,gnomAD
rs755245905	p.Trp25Arg	missense variant	-	NC_000006.12:g.83523514T>C	ExAC,gnomAD
rs767591823	p.Asp26Tyr	missense variant	-	NC_000006.12:g.83523517G>T	ExAC,gnomAD
rs753686080	p.Met28Leu	missense variant	-	NC_000006.12:g.83523523A>T	ExAC,TOPMed,gnomAD
rs753686080	p.Met28Leu	missense variant	-	NC_000006.12:g.83523523A>C	ExAC,TOPMed,gnomAD
rs757036453	p.Arg32Ser	missense variant	-	NC_000006.12:g.83523537A>T	ExAC,TOPMed,gnomAD
COSM3928636	p.Arg32Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.83523535A>T	NCI-TCGA Cosmic
rs1326278120	p.Lys33Asn	missense variant	-	NC_000006.12:g.83523540G>C	gnomAD
rs778891581	p.Val34Leu	missense variant	-	NC_000006.12:g.83523541G>T	ExAC,TOPMed,gnomAD
rs745812378	p.Pro35Arg	missense variant	-	NC_000006.12:g.83523545C>G	ExAC,gnomAD
rs554557790	p.Arg36Trp	missense variant	-	NC_000006.12:g.83523547C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs554557790	p.Arg36Gly	missense variant	-	NC_000006.12:g.83523547C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs186993743	p.Arg36Gln	missense variant	-	NC_000006.12:g.83523548G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs186993743	p.Arg36Gln	missense variant	-	NC_000006.12:g.83523548G>A	NCI-TCGA,NCI-TCGA Cosmic
rs201322773	p.Ile37Thr	missense variant	-	NC_000006.12:g.83523551T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1343496105	p.Glu40Ter	stop gained	-	NC_000006.12:g.83523559G>T	gnomAD
rs553841861	p.Arg41Ser	missense variant	-	NC_000006.12:g.83523564G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs553841861	p.Arg41Ser	missense variant	-	NC_000006.12:g.83523564G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1272546287	p.Thr42Ala	missense variant	-	NC_000006.12:g.83523565A>G	gnomAD
rs776400556	p.Thr42Ile	missense variant	-	NC_000006.12:g.83523566C>T	ExAC,TOPMed,gnomAD
rs748580488	p.Phe43Leu	missense variant	-	NC_000006.12:g.83523570C>G	ExAC,TOPMed,gnomAD
rs1246294380	p.His44Pro	missense variant	-	NC_000006.12:g.83523572A>C	gnomAD
rs1245840041	p.Leu45His	missense variant	-	NC_000006.12:g.83523575T>A	TOPMed
rs201064274	p.Ser47Asn	missense variant	-	NC_000006.12:g.83523581G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro48Leu	missense variant	-	NC_000006.12:g.83523584C>T	NCI-TCGA
rs545419681	p.Ala49Glu	missense variant	-	NC_000006.12:g.83523587C>A	1000Genomes,ExAC,gnomAD
rs763565235	p.Ala49Ser	missense variant	-	NC_000006.12:g.83523586G>T	ExAC,gnomAD
rs763565235	p.Ala49Thr	missense variant	-	NC_000006.12:g.83523586G>A	NCI-TCGA,NCI-TCGA Cosmic
rs763565235	p.Ala49Thr	missense variant	-	NC_000006.12:g.83523586G>A	ExAC,gnomAD
rs1323828411	p.Phe50Ser	missense variant	-	NC_000006.12:g.83523590T>C	gnomAD
rs774517165	p.Ala52Val	missense variant	-	NC_000006.12:g.83523596C>T	ExAC,TOPMed,gnomAD
COSM1082076	p.Ala52Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83523595G>A	NCI-TCGA Cosmic
rs759516573	p.Asp53His	missense variant	-	NC_000006.12:g.83523598G>C	ExAC,gnomAD
rs759516573	p.Asp53His	missense variant	-	NC_000006.12:g.83523598G>C	NCI-TCGA
rs372906386	p.Ala54Gly	missense variant	-	NC_000006.12:g.83523602C>G	ESP,ExAC,gnomAD
COSM72311	p.Ala54Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83523602C>T	NCI-TCGA Cosmic
rs1228274183	p.Lys55Thr	missense variant	-	NC_000006.12:g.83523605A>C	gnomAD
rs189815403	p.Met56Thr	missense variant	-	NC_000006.12:g.83523608T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met56Leu	missense variant	-	NC_000006.12:g.83523607A>C	NCI-TCGA
rs1210449909	p.Met57Leu	missense variant	-	NC_000006.12:g.83523610A>T	gnomAD
NCI-TCGA novel	p.Met57Ile	missense variant	-	NC_000006.12:g.83523612G>T	NCI-TCGA
rs750171997	p.Thr60Lys	missense variant	-	NC_000006.12:g.83523620C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr60Ile	missense variant	-	NC_000006.12:g.83523620C>T	NCI-TCGA
rs1261125580	p.Val61Met	missense variant	-	NC_000006.12:g.83523622G>A	TOPMed,gnomAD
rs544542764	p.Cys62Ter	stop gained	-	NC_000006.12:g.83523627T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1249636289	p.Cys62Tyr	missense variant	-	NC_000006.12:g.83523626G>A	gnomAD
NCI-TCGA novel	p.Cys62TrpPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.83523622_83523623GT>-	NCI-TCGA
rs544542764	p.Cys62Ter	stop gained	-	NC_000006.12:g.83523627T>A	NCI-TCGA
rs746577637	p.Glu65Lys	missense variant	-	NC_000006.12:g.83523634G>A	ExAC,TOPMed,gnomAD
rs746577637	p.Glu65Lys	missense variant	-	NC_000006.12:g.83523634G>A	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu65Ter	stop gained	-	NC_000006.12:g.83523634G>T	NCI-TCGA
rs1163330471	p.Cys66Arg	missense variant	-	NC_000006.12:g.83523637T>C	gnomAD
rs754432342	p.Gln67His	missense variant	-	NC_000006.12:g.83523642G>C	ExAC,gnomAD
rs1450339161	p.Glu69Gly	missense variant	-	NC_000006.12:g.83523647A>G	TOPMed
COSM3875829	p.Glu69Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.83523646G>T	NCI-TCGA Cosmic
rs573801680	p.Pro71Leu	missense variant	-	NC_000006.12:g.83523653C>T	ExAC,TOPMed,gnomAD
rs573801680	p.Pro71Arg	missense variant	-	NC_000006.12:g.83523653C>G	ExAC,TOPMed,gnomAD
rs370844141	p.Thr72Ile	missense variant	-	NC_000006.12:g.83523656C>T	ESP,ExAC,TOPMed,gnomAD
rs749572009	p.Pro73Arg	missense variant	-	NC_000006.12:g.83523659C>G	ExAC,TOPMed,gnomAD
rs749572009	p.Pro73Leu	missense variant	-	NC_000006.12:g.83523659C>T	ExAC,TOPMed,gnomAD
rs374565969	p.Pro73Ser	missense variant	-	NC_000006.12:g.83523658C>T	ESP,ExAC,TOPMed,gnomAD
rs774711692	p.Leu75Phe	missense variant	-	NC_000006.12:g.83523664C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu77Ter	stop gained	-	NC_000006.12:g.83523670G>T	NCI-TCGA
rs772146213	p.Glu79Ala	missense variant	-	NC_000006.12:g.83523677A>C	ExAC,gnomAD
rs775494109	p.Asp80Gly	missense variant	-	NC_000006.12:g.83523680A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp80Glu	missense variant	-	NC_000006.12:g.83523681T>A	NCI-TCGA
rs960761155	p.Tyr81His	missense variant	-	NC_000006.12:g.83523682T>C	TOPMed
rs760911168	p.Tyr81Phe	missense variant	-	NC_000006.12:g.83523683A>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu82Ile	missense variant	-	NC_000006.12:g.83523685C>A	NCI-TCGA
rs764263693	p.Tyr84His	missense variant	-	NC_000006.12:g.83523691T>C	ExAC,gnomAD
rs750259734	p.Tyr84Cys	missense variant	-	NC_000006.12:g.83523692A>G	ExAC,TOPMed,gnomAD
rs1269272109	p.Glu85Lys	missense variant	-	NC_000006.12:g.83523694G>A	TOPMed
rs1207812392	p.Glu89Asp	missense variant	-	NC_000006.12:g.83523708G>C	gnomAD
rs762634774	p.Gly91Asp	missense variant	-	NC_000006.12:g.83523713G>A	ExAC,gnomAD
rs182508722	p.Arg93Ter	stop gained	-	NC_000006.12:g.83523718C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs532622580	p.Arg93Gln	missense variant	-	NC_000006.12:g.83523719G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs532622580	p.Arg93Gln	missense variant	-	NC_000006.12:g.83523719G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1160956206	p.Thr94Ile	missense variant	-	NC_000006.12:g.83523722C>T	gnomAD
rs1160956206	p.Thr94Asn	missense variant	-	NC_000006.12:g.83523722C>A	gnomAD
COSM1082077	p.Leu95Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83523724T>A	NCI-TCGA Cosmic
rs1457048733	p.Thr96Pro	missense variant	-	NC_000006.12:g.83523727A>C	gnomAD
rs1318950636	p.Arg97Met	missense variant	-	NC_000006.12:g.83523731G>T	gnomAD
rs1318950636	p.Arg97Thr	missense variant	-	NC_000006.12:g.83523731G>C	gnomAD
rs1333634046	p.Gln101Arg	missense variant	-	NC_000006.12:g.83523743A>G	gnomAD
COSM1446170	p.Asp102Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83523745G>T	NCI-TCGA Cosmic
rs1338805284	p.Leu103Met	missense variant	-	NC_000006.12:g.83523748T>A	TOPMed,gnomAD
rs1338805284	p.Leu103Val	missense variant	-	NC_000006.12:g.83523748T>G	TOPMed,gnomAD
rs771200055	p.Glu106Lys	missense variant	-	NC_000006.12:g.83523757G>A	ExAC,gnomAD
rs1289228843	p.Pro107Leu	missense variant	-	NC_000006.12:g.83523761C>T	gnomAD
NCI-TCGA novel	p.Pro107Gln	missense variant	-	NC_000006.12:g.83523761C>A	NCI-TCGA
rs1227625320	p.Thr108Asn	missense variant	-	NC_000006.12:g.83523764C>A	gnomAD
rs1347091650	p.Asn110Ser	missense variant	-	NC_000006.12:g.83523770A>G	gnomAD
NCI-TCGA novel	p.Asn110Thr	missense variant	-	NC_000006.12:g.83523770A>C	NCI-TCGA
rs746378261	p.Ile111Thr	missense variant	-	NC_000006.12:g.83523773T>C	ExAC,gnomAD
rs1479107979	p.Thr112Asn	missense variant	-	NC_000006.12:g.83523776C>A	TOPMed
rs775580002	p.Lys114Arg	missense variant	-	NC_000006.12:g.83523782A>G	ExAC,gnomAD
rs1183630609	p.Lys114Asn	missense variant	-	NC_000006.12:g.83523783G>T	gnomAD
rs1252173827	p.Gly115Ala	missense variant	-	NC_000006.12:g.83523785G>C	gnomAD
NCI-TCGA novel	p.Gly115Glu	missense variant	-	NC_000006.12:g.83523785G>A	NCI-TCGA
NCI-TCGA novel	p.Gly115GluPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.83523783G>-	NCI-TCGA
rs201992952	p.Val116Leu	missense variant	-	NC_000006.12:g.83523787G>T	ESP,ExAC,TOPMed,gnomAD
rs1157462463	p.Val116Ala	missense variant	-	NC_000006.12:g.83523788T>C	TOPMed,gnomAD
rs201992952	p.Val116Ile	missense variant	-	NC_000006.12:g.83523787G>A	ESP,ExAC,TOPMed,gnomAD
rs1206457223	p.Ser117Pro	missense variant	-	NC_000006.12:g.83523790T>C	TOPMed
rs1379700440	p.Val118Ile	missense variant	-	NC_000006.12:g.83523793G>A	gnomAD
rs1172523957	p.Gln123His	missense variant	-	NC_000006.12:g.83523810G>C	gnomAD
rs1271264519	p.Val124Met	missense variant	-	NC_000006.12:g.83523811G>A	TOPMed
rs1411821003	p.Gly126Cys	missense variant	-	NC_000006.12:g.83523817G>T	gnomAD
COSM1446172	p.Gly126Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83523818G>A	NCI-TCGA Cosmic
rs776704051	p.Thr127Ser	missense variant	-	NC_000006.12:g.83523821C>G	ExAC,TOPMed,gnomAD
rs776704051	p.Thr127Ile	missense variant	-	NC_000006.12:g.83523821C>T	ExAC,TOPMed,gnomAD
rs1408200027	p.Asp128Asn	missense variant	-	NC_000006.12:g.83523823G>A	gnomAD
rs1408200027	p.Asp128Asn	missense variant	-	NC_000006.12:g.83523823G>A	NCI-TCGA Cosmic
rs1303628797	p.Arg130Gly	missense variant	-	NC_000006.12:g.83523829A>G	gnomAD
rs762872101	p.Ser132Asn	missense variant	-	NC_000006.12:g.83523836G>A	ExAC,TOPMed,gnomAD
rs766090161	p.Ile133Thr	missense variant	-	NC_000006.12:g.83523839T>C	ExAC,gnomAD
rs751308720	p.Ile133Met	missense variant	-	NC_000006.12:g.83523840C>G	ExAC,gnomAD
rs766090161	p.Ile133Thr	missense variant	-	NC_000006.12:g.83523839T>C	NCI-TCGA
NCI-TCGA novel	p.Ile133Cys	insertion	-	NC_000006.12:g.83523841_83523842insGCC	NCI-TCGA
NCI-TCGA novel	p.Leu134Phe	inframe deletion	-	NC_000006.12:g.83523843_83523845GGA>-	NCI-TCGA
rs148479497	p.Arg137Lys	missense variant	-	NC_000006.12:g.83523851G>A	ESP,ExAC,TOPMed,gnomAD
rs148479497	p.Arg137Thr	missense variant	-	NC_000006.12:g.83523851G>C	ESP,ExAC,TOPMed,gnomAD
rs148479497	p.Arg137Met	missense variant	-	NC_000006.12:g.83523851G>T	ESP,ExAC,TOPMed,gnomAD
rs925817659	p.Thr140Ile	missense variant	-	NC_000006.12:g.83523860C>T	gnomAD
rs1268958775	p.Asn141Lys	missense variant	-	NC_000006.12:g.83523864T>G	gnomAD
rs753441856	p.Phe142Ile	missense variant	-	NC_000006.12:g.83523865T>A	ExAC,gnomAD
rs753415172	p.Phe142Leu	missense variant	-	NC_000006.12:g.83523867C>A	ExAC,TOPMed,gnomAD
rs753415172	p.Phe142Leu	missense variant	-	NC_000006.12:g.83523867C>G	ExAC,TOPMed,gnomAD
rs147194232	p.Phe144Tyr	missense variant	-	NC_000006.12:g.83523872T>A	ESP,ExAC,TOPMed,gnomAD
rs746203891	p.Ser145Gly	missense variant	-	NC_000006.12:g.83523874A>G	ExAC,gnomAD
rs1169351727	p.Thr146Ile	missense variant	-	NC_000006.12:g.83523878C>T	gnomAD
rs1223183627	p.Val148Gly	missense variant	-	NC_000006.12:g.83523884T>G	gnomAD
rs1426215507	p.Lys149Arg	missense variant	-	NC_000006.12:g.83523887A>G	TOPMed
rs1370066011	p.Ser151Pro	missense variant	-	NC_000006.12:g.83523892T>C	gnomAD
NCI-TCGA novel	p.Ser151Phe	missense variant	-	NC_000006.12:g.83523893C>T	NCI-TCGA
rs1175978569	p.Thr152Ser	missense variant	-	NC_000006.12:g.83523895A>T	TOPMed
rs758944799	p.Thr152Met	missense variant	-	NC_000006.12:g.83523896C>T	ExAC,gnomAD
rs140464540	p.Gly153Asp	missense variant	-	NC_000006.12:g.83523899G>A	ESP,ExAC,TOPMed,gnomAD
rs769151148	p.Gly153Ser	missense variant	-	NC_000006.12:g.83523898G>A	TOPMed
rs747151838	p.Cys154Tyr	missense variant	-	NC_000006.12:g.83523902G>A	ExAC,gnomAD
NCI-TCGA novel	p.Cys154Phe	missense variant	-	NC_000006.12:g.83523902G>T	NCI-TCGA
rs768715990	p.Ser155Asn	missense variant	-	NC_000006.12:g.83523905G>A	ExAC,TOPMed,gnomAD
rs538240358	p.Gly156Ala	missense variant	-	NC_000006.12:g.83523908G>C	1000Genomes,ExAC,gnomAD
rs538240358	p.Gly156Asp	missense variant	-	NC_000006.12:g.83523908G>A	1000Genomes,ExAC,gnomAD
rs1340866721	p.Ile157Thr	missense variant	-	NC_000006.12:g.83523911T>C	gnomAD
rs1201749180	p.Ile159Val	missense variant	-	NC_000006.12:g.83523916A>G	gnomAD
rs770008879	p.Ser160Thr	missense variant	-	NC_000006.12:g.83523919T>A	ExAC,gnomAD
rs774042219	p.Gln162Arg	missense variant	-	NC_000006.12:g.83523926A>G	ExAC
COSM3831127	p.Gln162Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.83523925C>T	NCI-TCGA Cosmic
rs759370340	p.His163Tyr	missense variant	-	NC_000006.12:g.83523928C>T	ExAC,gnomAD
rs767609442	p.His163Gln	missense variant	-	NC_000006.12:g.83523930T>A	ExAC,gnomAD
rs1265672536	p.Val164Gly	missense variant	-	NC_000006.12:g.83523932T>G	gnomAD
rs781669584	p.Ala167Val	missense variant	-	NC_000006.12:g.83523941C>T	ExAC,TOPMed,gnomAD
rs781669584	p.Ala167Gly	missense variant	-	NC_000006.12:g.83523941C>G	ExAC,TOPMed,gnomAD
rs1390037209	p.His169Pro	missense variant	-	NC_000006.12:g.83523947A>C	gnomAD
rs1447738605	p.Val171Ala	missense variant	-	NC_000006.12:g.83523953T>C	gnomAD
rs895584525	p.Asp173Val	missense variant	-	NC_000006.12:g.83523959A>T	TOPMed
NCI-TCGA novel	p.Lys175Asn	missense variant	-	NC_000006.12:g.83523966G>T	NCI-TCGA
rs151268050	p.Asp176Asn	missense variant	-	NC_000006.12:g.83523967G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val178Ala	missense variant	-	NC_000006.12:g.83523974T>C	NCI-TCGA
rs568224541	p.Gly180Arg	missense variant	-	NC_000006.12:g.83523979G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs568224541	p.Gly180Arg	missense variant	-	NC_000006.12:g.83523979G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs747518209	p.Lys182Thr	missense variant	-	NC_000006.12:g.83523986A>C	ExAC
rs898683633	p.Leu184Val	missense variant	-	NC_000006.12:g.83523991C>G	gnomAD
rs1263690781	p.Arg185Lys	missense variant	-	NC_000006.12:g.83523995G>A	gnomAD
NCI-TCGA novel	p.Arg185Ser	missense variant	-	NC_000006.12:g.83523996G>T	NCI-TCGA
rs1243654325	p.Val186Ala	missense variant	-	NC_000006.12:g.83523998T>C	TOPMed,gnomAD
rs748215132	p.Gly187Arg	missense variant	-	NC_000006.12:g.83524000G>A	ExAC,gnomAD
COSM6107647	p.Lys190Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524011G>C	NCI-TCGA Cosmic
rs769944948	p.Met191Val	missense variant	-	NC_000006.12:g.83524012A>G	ExAC,TOPMed,gnomAD
rs769944948	p.Met191Leu	missense variant	-	NC_000006.12:g.83524012A>T	ExAC,TOPMed,gnomAD
rs1196920196	p.Arg192Lys	missense variant	-	NC_000006.12:g.83524016G>A	TOPMed,gnomAD
rs1248020826	p.Lys194Glu	missense variant	-	NC_000006.12:g.83524021A>G	gnomAD
NCI-TCGA novel	p.Lys194Thr	missense variant	-	NC_000006.12:g.83524022A>C	NCI-TCGA
rs1468386667	p.Ser195Gly	missense variant	-	NC_000006.12:g.83524024A>G	TOPMed
NCI-TCGA novel	p.Ser195Arg	missense variant	-	NC_000006.12:g.83524026T>A	NCI-TCGA
NCI-TCGA novel	p.Ser195Arg	missense variant	-	NC_000006.12:g.83524024A>C	NCI-TCGA
rs773458529	p.Gly197Ala	missense variant	-	NC_000006.12:g.83524031G>C	ExAC,gnomAD
rs772000403	p.Arg200His	missense variant	-	NC_000006.12:g.83524040G>A	ExAC,TOPMed,gnomAD
rs1162970042	p.Arg201Gln	missense variant	-	NC_000006.12:g.83524043G>A	gnomAD
rs867533390	p.Arg201Ter	stop gained	-	NC_000006.12:g.83524042C>T	gnomAD
rs200711692	p.Ser203Pro	missense variant	-	NC_000006.12:g.83524048T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser203Phe	missense variant	-	NC_000006.12:g.83524049C>T	NCI-TCGA
rs769211650	p.Lys204Glu	missense variant	-	NC_000006.12:g.83524051A>G	TOPMed
rs769211650	p.Lys204Ter	stop gained	-	NC_000006.12:g.83524051A>T	TOPMed
rs1013622028	p.Ser206Thr	missense variant	-	NC_000006.12:g.83524058G>C	gnomAD
rs776045199	p.Ser206Arg	missense variant	-	NC_000006.12:g.83524059C>A	ExAC,TOPMed,gnomAD
rs761363640	p.Ala210Thr	missense variant	-	NC_000006.12:g.83524069G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala210Ser	missense variant	-	NC_000006.12:g.83524069G>T	NCI-TCGA
rs1394888623	p.Ser211Asn	missense variant	-	NC_000006.12:g.83524073G>A	gnomAD
rs1394888623	p.Ser211Asn	missense variant	-	NC_000006.12:g.83524073G>A	NCI-TCGA
rs187744330	p.Gly212Asp	missense variant	-	NC_000006.12:g.83524076G>A	1000Genomes,ExAC,gnomAD
rs764857769	p.Gly212Cys	missense variant	-	NC_000006.12:g.83524075G>T	ExAC,gnomAD
rs757978416	p.Gly213Cys	missense variant	-	NC_000006.12:g.83524078G>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly213AspPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.83524078_83524079insATATT	NCI-TCGA
NCI-TCGA novel	p.Gly213Val	missense variant	-	NC_000006.12:g.83524079G>T	NCI-TCGA
NCI-TCGA novel	p.Arg216Thr	missense variant	-	NC_000006.12:g.83524088G>C	NCI-TCGA
rs139270767	p.Glu217Asp	missense variant	-	NC_000006.12:g.83524092G>C	ESP,ExAC,TOPMed,gnomAD
rs1315704508	p.Gly218Asp	missense variant	-	NC_000006.12:g.83524094G>A	TOPMed,gnomAD
COSM1329528	p.Gly218Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524093G>T	NCI-TCGA Cosmic
rs755469848	p.Thr219Ile	missense variant	-	NC_000006.12:g.83524097C>T	ExAC,gnomAD
rs541267616	p.Thr219Ser	missense variant	-	NC_000006.12:g.83524096A>T	ExAC,gnomAD
rs541267616	p.Thr219Ala	missense variant	-	NC_000006.12:g.83524096A>G	ExAC,gnomAD
rs752765181	p.Arg220Ser	missense variant	-	NC_000006.12:g.83524101A>C	ExAC,gnomAD
rs781699594	p.Arg220Gly	missense variant	-	NC_000006.12:g.83524099A>G	ExAC,gnomAD
rs367751854	p.Glu221Lys	missense variant	-	NC_000006.12:g.83524102G>A	ESP,ExAC,gnomAD
rs1159689072	p.Glu221Gly	missense variant	-	NC_000006.12:g.83524103A>G	gnomAD
COSM742995	p.Glu221Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.83524102G>T	NCI-TCGA Cosmic
rs777920968	p.His222Arg	missense variant	-	NC_000006.12:g.83524106A>G	ExAC,TOPMed,gnomAD
rs1398690988	p.His222Gln	missense variant	-	NC_000006.12:g.83524107T>G	gnomAD
NCI-TCGA novel	p.Leu223Arg	missense variant	-	NC_000006.12:g.83524109T>G	NCI-TCGA
rs504593	p.Arg224Gln	missense variant	-	NC_000006.12:g.83524112G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs955444017	p.Glu225Asp	missense variant	-	NC_000006.12:g.83524116G>C	TOPMed
rs202236574	p.Arg226Thr	missense variant	-	NC_000006.12:g.83524118G>C	1000Genomes,ExAC,gnomAD
rs375371522	p.Ala227Val	missense variant	-	NC_000006.12:g.83524121C>T	ESP,ExAC,TOPMed,gnomAD
rs375371522	p.Ala227Glu	missense variant	-	NC_000006.12:g.83524121C>A	ESP,ExAC,TOPMed,gnomAD
rs368256706	p.Lys228Glu	missense variant	-	NC_000006.12:g.83524123A>G	ESP,ExAC,TOPMed,gnomAD
rs1383290895	p.Gly229Val	missense variant	-	NC_000006.12:g.83524127G>T	TOPMed
rs776619054	p.Arg232Ile	missense variant	-	NC_000006.12:g.83524136G>T	ExAC,gnomAD
rs776619054	p.Arg232Lys	missense variant	-	NC_000006.12:g.83524136G>A	ExAC,gnomAD
COSM3430912	p.Arg233Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524139G>T	NCI-TCGA Cosmic
rs1287277897	p.Lys235Thr	missense variant	-	NC_000006.12:g.83524145A>C	gnomAD
COSM276923	p.Lys235Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524144A>C	NCI-TCGA Cosmic
rs145431726	p.Ser236Phe	missense variant	-	NC_000006.12:g.83524148C>T	ESP,ExAC,TOPMed,gnomAD
rs145431726	p.Ser236Tyr	missense variant	-	NC_000006.12:g.83524148C>A	ESP,ExAC,TOPMed,gnomAD
rs145431726	p.Ser236Phe	missense variant	-	NC_000006.12:g.83524148C>T	NCI-TCGA Cosmic
rs1289649864	p.Gly237Ala	missense variant	-	NC_000006.12:g.83524151G>C	TOPMed
rs769349887	p.Arg238Trp	missense variant	-	NC_000006.12:g.83524153C>T	ExAC,gnomAD
rs147359174	p.Arg238Gln	missense variant	-	NC_000006.12:g.83524154G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769349887	p.Arg238Trp	missense variant	-	NC_000006.12:g.83524153C>T	NCI-TCGA
rs555827964	p.Gly239Cys	missense variant	-	NC_000006.12:g.83524156G>T	1000Genomes,ExAC,gnomAD
rs555827964	p.Gly239Arg	missense variant	-	NC_000006.12:g.83524156G>C	1000Genomes,ExAC,gnomAD
rs575677083	p.Gly239Asp	missense variant	-	NC_000006.12:g.83524157G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1167587579	p.Ala243Thr	missense variant	-	NC_000006.12:g.83524168G>A	TOPMed
rs541411659	p.Glu244Lys	missense variant	-	NC_000006.12:g.83524171G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs541411659	p.Glu244Lys	missense variant	-	NC_000006.12:g.83524171G>A	NCI-TCGA,NCI-TCGA Cosmic
rs778024616	p.Gly245Trp	missense variant	-	NC_000006.12:g.83524174G>T	ExAC
NCI-TCGA novel	p.Gly245Glu	missense variant	-	NC_000006.12:g.83524175G>A	NCI-TCGA
rs973324121	p.Ser248Pro	missense variant	-	NC_000006.12:g.83524183T>C	TOPMed,gnomAD
rs1171242271	p.Phe249Cys	missense variant	-	NC_000006.12:g.83524187T>G	gnomAD
rs746859209	p.Gln250Pro	missense variant	-	NC_000006.12:g.83524190A>C	ExAC,TOPMed,gnomAD
rs746859209	p.Gln250Arg	missense variant	-	NC_000006.12:g.83524190A>G	ExAC,TOPMed,gnomAD
rs780784760	p.Trp251Ter	stop gained	-	NC_000006.12:g.83524194G>A	ExAC,gnomAD
rs185512193	p.Trp251Arg	missense variant	-	NC_000006.12:g.83524192T>C	1000Genomes,ExAC,gnomAD
rs1307037596	p.Trp251Leu	missense variant	-	NC_000006.12:g.83524193G>T	gnomAD
rs185512193	p.Trp251Arg	missense variant	-	NC_000006.12:g.83524192T>C	NCI-TCGA,NCI-TCGA Cosmic
rs1263494157	p.Arg253Trp	missense variant	-	NC_000006.12:g.83524198C>T	TOPMed
rs748129041	p.Arg253Gln	missense variant	-	NC_000006.12:g.83524199G>A	ExAC,TOPMed,gnomAD
rs1263494157	p.Arg253Trp	missense variant	-	NC_000006.12:g.83524198C>T	NCI-TCGA Cosmic
rs748129041	p.Arg253Pro	missense variant	-	NC_000006.12:g.83524199G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg253Leu	missense variant	-	NC_000006.12:g.83524199G>T	NCI-TCGA
rs1258386849	p.Lys255Thr	missense variant	-	NC_000006.12:g.83524205A>C	TOPMed
rs920527432	p.His258Tyr	missense variant	-	NC_000006.12:g.83524213C>T	TOPMed,gnomAD
rs141429310	p.Pro260Arg	missense variant	-	NC_000006.12:g.83524220C>G	ESP,ExAC,TOPMed,gnomAD
rs141429310	p.Pro260Leu	missense variant	-	NC_000006.12:g.83524220C>T	ESP,ExAC,TOPMed,gnomAD
rs141429310	p.Pro260Leu	missense variant	-	NC_000006.12:g.83524220C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1232786321	p.Trp263Ter	stop gained	-	NC_000006.12:g.83524229G>A	gnomAD
rs770615324	p.Trp263Ter	stop gained	-	NC_000006.12:g.83524230G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp263Leu	missense variant	-	NC_000006.12:g.83524229G>T	NCI-TCGA
rs1342981248	p.Ala264Val	missense variant	-	NC_000006.12:g.83524232C>T	gnomAD
rs574996749	p.Arg265Gln	missense variant	-	NC_000006.12:g.83524235G>A	1000Genomes,ExAC,gnomAD
rs773975931	p.Arg265Ter	stop gained	-	NC_000006.12:g.83524234C>T	ExAC,TOPMed,gnomAD
rs574996749	p.Arg265Gln	missense variant	-	NC_000006.12:g.83524235G>A	NCI-TCGA,NCI-TCGA Cosmic
rs773975931	p.Arg265Ter	stop gained	-	NC_000006.12:g.83524234C>T	NCI-TCGA,NCI-TCGA Cosmic
rs574996749	p.Arg265Leu	missense variant	-	NC_000006.12:g.83524235G>T	1000Genomes,ExAC,gnomAD
rs1367084252	p.Gly266Glu	missense variant	-	NC_000006.12:g.83524238G>A	TOPMed
rs748866087	p.Gly269Val	missense variant	-	NC_000006.12:g.83524247G>T	gnomAD
rs748866087	p.Gly269Glu	missense variant	-	NC_000006.12:g.83524247G>A	gnomAD
rs1247034991	p.Asp270Gly	missense variant	-	NC_000006.12:g.83524250A>G	gnomAD
rs752959351	p.Thr272Asn	missense variant	-	NC_000006.12:g.83524256C>A	ExAC,gnomAD
rs754021722	p.Asp274Gly	missense variant	-	NC_000006.12:g.83524262A>G	ExAC,gnomAD
rs1449544833	p.Asp274Tyr	missense variant	-	NC_000006.12:g.83524261G>T	gnomAD
rs757399982	p.Tyr275Ser	missense variant	-	NC_000006.12:g.83524265A>C	ExAC,gnomAD
rs757399982	p.Tyr275Cys	missense variant	-	NC_000006.12:g.83524265A>G	ExAC,gnomAD
rs140648812	p.Asp276Gly	missense variant	-	NC_000006.12:g.83524268A>G	ESP,ExAC,TOPMed,gnomAD
rs902837996	p.Tyr277Cys	missense variant	-	NC_000006.12:g.83524271A>G	TOPMed,gnomAD
rs781061002	p.Leu279Phe	missense variant	-	NC_000006.12:g.83524276C>T	ExAC,TOPMed,gnomAD
rs781061002	p.Leu279Val	missense variant	-	NC_000006.12:g.83524276C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu280Pro	missense variant	-	NC_000006.12:g.83524280T>C	NCI-TCGA
rs774283117	p.Glu281Gln	missense variant	-	NC_000006.12:g.83524282G>C	TOPMed
rs113543482	p.Arg284His	missense variant	-	NC_000006.12:g.83524292G>A	ExAC,TOPMed,gnomAD
rs113543482	p.Arg284Pro	missense variant	-	NC_000006.12:g.83524292G>C	ExAC,TOPMed,gnomAD
rs756083564	p.Arg284Cys	missense variant	-	NC_000006.12:g.83524291C>T	ExAC,TOPMed,gnomAD
rs1358787735	p.Ala285Val	missense variant	-	NC_000006.12:g.83524295C>T	gnomAD
rs770420985	p.Lys287Glu	missense variant	-	NC_000006.12:g.83524300A>G	ExAC,TOPMed,gnomAD
rs770420985	p.Lys287Gln	missense variant	-	NC_000006.12:g.83524300A>C	ExAC,TOPMed,gnomAD
rs996976750	p.Lys288Glu	missense variant	-	NC_000006.12:g.83524303A>G	TOPMed,gnomAD
rs1467879438	p.Lys288Asn	missense variant	-	NC_000006.12:g.83524305G>T	gnomAD
rs1161835484	p.Lys288Met	missense variant	-	NC_000006.12:g.83524304A>T	TOPMed,gnomAD
rs532737344	p.Lys289Asn	missense variant	-	NC_000006.12:g.83524308A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs771586617	p.Tyr290His	missense variant	-	NC_000006.12:g.83524309T>C	ExAC,gnomAD
COSM1082079	p.Tyr290Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524310A>G	NCI-TCGA Cosmic
rs1465279108	p.Met291Val	missense variant	-	NC_000006.12:g.83524312A>G	TOPMed,gnomAD
COSM1082080	p.Met291Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524313T>C	NCI-TCGA Cosmic
COSM3630203	p.Glu292Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524315G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu292AsnPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.83524314G>-	NCI-TCGA
rs1351872113	p.Gly294Val	missense variant	-	NC_000006.12:g.83524322G>T	TOPMed,gnomAD
rs1351872113	p.Gly294Glu	missense variant	-	NC_000006.12:g.83524322G>A	TOPMed,gnomAD
rs1239894970	p.Gly294Arg	missense variant	-	NC_000006.12:g.83524321G>A	gnomAD
rs1351872113	p.Gly294Glu	missense variant	-	NC_000006.12:g.83524322G>A	NCI-TCGA Cosmic
rs760930035	p.Pro297Leu	missense variant	-	NC_000006.12:g.83524331C>T	ExAC,gnomAD
rs369975035	p.Thr298Ala	missense variant	-	NC_000006.12:g.83524333A>G	ESP,ExAC,gnomAD
rs1460269196	p.Thr298Met	missense variant	-	NC_000006.12:g.83524334C>T	gnomAD
rs1460269196	p.Thr298Met	missense variant	-	NC_000006.12:g.83524334C>T	NCI-TCGA
rs1303662762	p.Ile299Asn	missense variant	-	NC_000006.12:g.83524337T>A	TOPMed
rs759409246	p.Lys300Asn	missense variant	-	NC_000006.12:g.83524341G>C	TOPMed,gnomAD
rs765422823	p.Ile307Phe	missense variant	-	NC_000006.12:g.83524360A>T	ExAC,TOPMed,gnomAD
rs765422823	p.Ile307Val	missense variant	-	NC_000006.12:g.83524360A>G	ExAC,TOPMed,gnomAD
rs1045099749	p.His308Arg	missense variant	-	NC_000006.12:g.83524364A>G	gnomAD
rs1342365445	p.Gly311Glu	missense variant	-	NC_000006.12:g.83524373G>A	gnomAD
rs982873007	p.Phe312Tyr	missense variant	-	NC_000006.12:g.83524376T>A	TOPMed,gnomAD
rs982873007	p.Phe312Ser	missense variant	-	NC_000006.12:g.83524376T>C	TOPMed,gnomAD
rs1448776426	p.Asp313Glu	missense variant	-	NC_000006.12:g.83524380T>A	gnomAD
rs200436779	p.Asn314Asp	missense variant	-	NC_000006.12:g.83524381A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs139406931	p.Asn314Lys	missense variant	-	NC_000006.12:g.83524383C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3630205	p.Asp315Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524384G>A	NCI-TCGA Cosmic
rs777750441	p.Arg316Thr	missense variant	-	NC_000006.12:g.83524388G>C	ExAC,gnomAD
rs369024634	p.Asp318Asn	missense variant	-	NC_000006.12:g.83524393G>A	ESP,ExAC
rs757126180	p.Asp318Ala	missense variant	-	NC_000006.12:g.83524394A>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp318Val	missense variant	-	NC_000006.12:g.83524394A>T	NCI-TCGA
rs1032336788	p.Gln319Lys	missense variant	-	NC_000006.12:g.83524396C>A	TOPMed
rs372801380	p.Leu320Ser	missense variant	-	NC_000006.12:g.83524400T>C	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Leu320Phe	missense variant	-	NC_000006.12:g.83524401G>T	NCI-TCGA
rs778518818	p.Val321Phe	missense variant	-	NC_000006.12:g.83524402G>T	ExAC,TOPMed,gnomAD
rs778518818	p.Val321Ile	missense variant	-	NC_000006.12:g.83524402G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val321Gly	missense variant	-	NC_000006.12:g.83524403T>G	NCI-TCGA
rs745341301	p.Tyr322Cys	missense variant	-	NC_000006.12:g.83524406A>G	ExAC,TOPMed,gnomAD
rs1243536858	p.Tyr322His	missense variant	-	NC_000006.12:g.83524405T>C	gnomAD
rs1184839575	p.Arg323Gln	missense variant	-	NC_000006.12:g.83524409G>A	TOPMed,gnomAD
rs1184839575	p.Arg323Leu	missense variant	-	NC_000006.12:g.83524409G>T	TOPMed,gnomAD
rs1474009747	p.Arg323Trp	missense variant	-	NC_000006.12:g.83524408C>T	NCI-TCGA Cosmic
rs1474009747	p.Arg323Trp	missense variant	-	NC_000006.12:g.83524408C>T	gnomAD
rs771810048	p.Ser326Arg	missense variant	-	NC_000006.12:g.83524417A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser326Gly	missense variant	-	NC_000006.12:g.83524417A>G	NCI-TCGA
NCI-TCGA novel	p.Ser328Tyr	missense variant	-	NC_000006.12:g.83524424C>A	NCI-TCGA
rs1157353385	p.Asp329Asn	missense variant	-	NC_000006.12:g.83524426G>A	gnomAD
rs568367796	p.Asp329Glu	missense variant	-	NC_000006.12:g.83524428C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1157353385	p.Asp329Asn	missense variant	-	NC_000006.12:g.83524426G>A	NCI-TCGA Cosmic
rs1415173956	p.Glu330Gly	missense variant	-	NC_000006.12:g.83524430A>G	gnomAD
COSM284310	p.Glu330Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524429G>A	NCI-TCGA Cosmic
COSM1082082	p.Ser331Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524433C>A	NCI-TCGA Cosmic
rs1411862646	p.Asn332Lys	missense variant	-	NC_000006.12:g.83524437T>G	TOPMed,gnomAD
rs769148603	p.Asn332Asp	missense variant	-	NC_000006.12:g.83524435A>G	ExAC,gnomAD
rs141172122	p.Asn332Ser	missense variant	-	NC_000006.12:g.83524436A>G	ESP,ExAC,TOPMed,gnomAD
rs1289169105	p.Asp333Gly	missense variant	-	NC_000006.12:g.83524439A>G	gnomAD
COSM3630207	p.Asp333Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524438G>A	NCI-TCGA Cosmic
rs371415358	p.Leu335Phe	missense variant	-	NC_000006.12:g.83524444C>T	ESP
rs762431322	p.Tyr336His	missense variant	-	NC_000006.12:g.83524447T>C	ExAC,TOPMed,gnomAD
COSM742993	p.Tyr336Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.83524449C>A	NCI-TCGA Cosmic
rs202074086	p.Gln337Glu	missense variant	-	NC_000006.12:g.83524450C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs202074086	p.Gln337Lys	missense variant	-	NC_000006.12:g.83524450C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1258960136	p.Gln337His	missense variant	-	NC_000006.12:g.83524452A>C	gnomAD
rs202074086	p.Gln337Ter	stop gained	-	NC_000006.12:g.83524450C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs766677846	p.Cys339Arg	missense variant	-	NC_000006.12:g.83524456T>C	ExAC,TOPMed,gnomAD
rs751722572	p.Cys339Ter	stop gained	-	NC_000006.12:g.83524458C>A	ExAC,TOPMed,gnomAD
rs763887425	p.Asp340Glu	missense variant	-	NC_000006.12:g.83524461T>G	ExAC,gnomAD
rs267601142	p.Asp340Asn	missense variant	-	NC_000006.12:g.83524459G>A	ExAC,gnomAD
rs267601142	p.Asp340Asn	missense variant	-	NC_000006.12:g.83524459G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1252013929	p.Ala341Val	missense variant	-	NC_000006.12:g.83524463C>T	gnomAD
NCI-TCGA novel	p.Glu342AlaPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.83524465_83524466insCTCCTCTT	NCI-TCGA
rs753593148	p.Ser343Leu	missense variant	-	NC_000006.12:g.83524469C>T	ExAC,gnomAD
rs1379936525	p.Thr346Ile	missense variant	-	NC_000006.12:g.83524478C>T	gnomAD
rs765201576	p.Gly347Arg	missense variant	-	NC_000006.12:g.83524480G>C	ExAC,gnomAD
rs765201576	p.Gly347Ser	missense variant	-	NC_000006.12:g.83524480G>A	ExAC,gnomAD
rs765201576	p.Gly347Cys	missense variant	-	NC_000006.12:g.83524480G>T	ExAC,gnomAD
rs765201576	p.Gly347Ser	missense variant	-	NC_000006.12:g.83524480G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1173135352	p.Ser348Leu	missense variant	-	NC_000006.12:g.83524484C>T	gnomAD
rs1173135352	p.Ser348Leu	missense variant	-	NC_000006.12:g.83524484C>T	NCI-TCGA Cosmic
rs1469949398	p.Val350Phe	missense variant	-	NC_000006.12:g.83524489G>T	TOPMed
rs1308874357	p.Tyr351Ser	missense variant	-	NC_000006.12:g.83524493A>C	gnomAD
rs1396040754	p.Leu352Pro	missense variant	-	NC_000006.12:g.83524496T>C	gnomAD
rs757842601	p.Arg353His	missense variant	-	NC_000006.12:g.83524499G>A	ExAC,gnomAD
rs1390663963	p.Arg353Gly	missense variant	-	NC_000006.12:g.83524498C>G	gnomAD
rs757842601	p.Arg353Pro	missense variant	-	NC_000006.12:g.83524499G>C	ExAC,gnomAD
COSM3875834	p.Arg353Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524498C>T	NCI-TCGA Cosmic
rs757842601	p.Arg353His	missense variant	-	NC_000006.12:g.83524499G>A	NCI-TCGA Cosmic
rs779550849	p.Asp356Tyr	missense variant	-	NC_000006.12:g.83524507G>T	ExAC,gnomAD
COSM742991	p.Pro357Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524511C>A	NCI-TCGA Cosmic
rs768376369	p.Asp358Gly	missense variant	-	NC_000006.12:g.83524514A>G	ExAC,TOPMed,gnomAD
rs768376369	p.Asp358Val	missense variant	-	NC_000006.12:g.83524514A>T	ExAC,TOPMed,gnomAD
rs1173544925	p.Lys359Arg	missense variant	-	NC_000006.12:g.83524517A>G	TOPMed
rs780712654	p.Lys360Ter	stop gained	-	NC_000006.12:g.83524519A>T	ExAC,TOPMed,gnomAD
rs750566416	p.Lys360Asn	missense variant	-	NC_000006.12:g.83524521G>T	ExAC,gnomAD
rs780712654	p.Lys360Gln	missense variant	-	NC_000006.12:g.83524519A>C	ExAC,TOPMed,gnomAD
rs1364381204	p.Lys360Arg	missense variant	-	NC_000006.12:g.83524520A>G	TOPMed
NCI-TCGA novel	p.Lys360Thr	missense variant	-	NC_000006.12:g.83524520A>C	NCI-TCGA
rs770381062	p.Asn361Lys	missense variant	-	NC_000006.12:g.83524524T>A	ExAC,TOPMed,gnomAD
rs1274990173	p.Asn361Tyr	missense variant	-	NC_000006.12:g.83524522A>T	gnomAD
rs1194485831	p.Trp362Ter	stop gained	-	NC_000006.12:g.83524527G>A	TOPMed,gnomAD
rs758536096	p.Arg364Ser	missense variant	-	NC_000006.12:g.83524531C>A	ExAC,gnomAD
rs758536096	p.Arg364Gly	missense variant	-	NC_000006.12:g.83524531C>G	ExAC,gnomAD
rs758536096	p.Arg364Cys	missense variant	-	NC_000006.12:g.83524531C>T	ExAC,gnomAD
rs1452509235	p.Arg364His	missense variant	-	NC_000006.12:g.83524532G>A	gnomAD
rs1452509235	p.Arg364His	missense variant	-	NC_000006.12:g.83524532G>A	NCI-TCGA Cosmic
rs758536096	p.Arg364Cys	missense variant	-	NC_000006.12:g.83524531C>T	NCI-TCGA,NCI-TCGA Cosmic
rs758536096	p.Arg364Gly	missense variant	-	NC_000006.12:g.83524531C>G	NCI-TCGA
NCI-TCGA novel	p.Lys365Asn	missense variant	-	NC_000006.12:g.83524536A>C	NCI-TCGA
rs763155572	p.Ile367Val	missense variant	-	NC_000006.12:g.83524540A>G	ExAC,TOPMed,gnomAD
rs983020216	p.Ala368Val	missense variant	-	NC_000006.12:g.83524544C>T	-
rs983020216	p.Ala368Val	missense variant	-	NC_000006.12:g.83524544C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val369Ile	missense variant	-	NC_000006.12:g.83524546G>A	NCI-TCGA
rs767698701	p.Gly372Glu	missense variant	-	NC_000006.12:g.83524556G>A	ExAC,gnomAD
rs1351485321	p.Gln374Arg	missense variant	-	NC_000006.12:g.83524562A>G	TOPMed
rs753685998	p.Trp375Ter	stop gained	-	NC_000006.12:g.83524565G>A	ExAC,gnomAD
rs761585932	p.Trp375Cys	missense variant	-	NC_000006.12:g.83524566G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp377Tyr	missense variant	-	NC_000006.12:g.83524570G>T	NCI-TCGA
rs758299078	p.His379Gln	missense variant	-	NC_000006.12:g.83524578C>A	ExAC,TOPMed,gnomAD
COSM3630210	p.His379Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524576C>T	NCI-TCGA Cosmic
rs137859515	p.Gly380Arg	missense variant	-	NC_000006.12:g.83524579G>C	ESP,ExAC,TOPMed,gnomAD
rs137859515	p.Gly380Arg	missense variant	-	NC_000006.12:g.83524579G>A	ESP,ExAC,TOPMed,gnomAD
rs751072274	p.Val381Ile	missense variant	-	NC_000006.12:g.83524582G>A	ExAC,gnomAD
rs780968244	p.Gln382Arg	missense variant	-	NC_000006.12:g.83524586A>G	ExAC,TOPMed,gnomAD
COSM4904829	p.Asp384Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524591G>A	NCI-TCGA Cosmic
rs770046319	p.Tyr385Cys	missense variant	-	NC_000006.12:g.83524595A>G	ExAC,gnomAD
rs770046319	p.Tyr385Ser	missense variant	-	NC_000006.12:g.83524595A>C	ExAC,gnomAD
rs377368536	p.Tyr385Asn	missense variant	-	NC_000006.12:g.83524594T>A	ESP,ExAC,TOPMed,gnomAD
rs1450419530	p.Val387Ala	missense variant	-	NC_000006.12:g.83524601T>C	TOPMed,gnomAD
rs375255168	p.Val387Ile	missense variant	-	NC_000006.12:g.83524600G>A	ESP,gnomAD
rs375255168	p.Val387Ile	missense variant	-	NC_000006.12:g.83524600G>A	NCI-TCGA
rs749770191	p.Ala388Thr	missense variant	-	NC_000006.12:g.83524603G>A	ExAC,gnomAD
rs367851503	p.Arg390Ser	missense variant	-	NC_000006.12:g.83524609C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs367851503	p.Arg390Cys	missense variant	-	NC_000006.12:g.83524609C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs747045465	p.Arg390Pro	missense variant	-	NC_000006.12:g.83524610G>C	ExAC,gnomAD
rs747045465	p.Arg390Leu	missense variant	-	NC_000006.12:g.83524610G>T	ExAC,gnomAD
rs1189341775	p.Pro393Ser	missense variant	-	NC_000006.12:g.83524618C>T	TOPMed,gnomAD
rs775688536	p.Pro393His	missense variant	-	NC_000006.12:g.83524619C>A	ExAC,TOPMed,gnomAD
rs764955895	p.Ala397Ser	missense variant	-	NC_000006.12:g.83524630G>T	ExAC,gnomAD
rs773012344	p.Ala397Gly	missense variant	-	NC_000006.12:g.83524631C>G	ExAC,gnomAD
rs1461826916	p.Gln398Glu	missense variant	-	NC_000006.12:g.83524633C>G	gnomAD
rs762831623	p.Gln398His	missense variant	-	NC_000006.12:g.83524635G>C	ExAC,gnomAD
rs1020187738	p.Leu401Phe	missense variant	-	NC_000006.12:g.83524642C>T	TOPMed,gnomAD
rs766307797	p.Trp402Cys	missense variant	-	NC_000006.12:g.83524647G>C	ExAC,gnomAD
rs766307797	p.Trp402Ter	stop gained	-	NC_000006.12:g.83524647G>A	ExAC,gnomAD
NCI-TCGA novel	p.Trp402Cys	missense variant	-	NC_000006.12:g.83524647G>T	NCI-TCGA
rs535446593	p.His404Gln	missense variant	-	NC_000006.12:g.83524653C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1213614535	p.Gly405Val	missense variant	-	NC_000006.12:g.83524655G>T	gnomAD
rs767345620	p.Gly405Trp	missense variant	-	NC_000006.12:g.83524654G>T	ExAC,gnomAD
rs1233114565	p.Asn406Asp	missense variant	-	NC_000006.12:g.83524657A>G	TOPMed,gnomAD
rs776819854	p.Asp407Asn	missense variant	-	NC_000006.12:g.83524660G>A	TOPMed
rs776819854	p.Asp407His	missense variant	-	NC_000006.12:g.83524660G>C	TOPMed
rs776819854	p.Asp407Asn	missense variant	-	NC_000006.12:g.83524660G>A	NCI-TCGA,NCI-TCGA Cosmic
rs761909723	p.Ala408Val	missense variant	-	NC_000006.12:g.83524664C>T	gnomAD
rs202217440	p.Asn409Ser	missense variant	-	NC_000006.12:g.83524667A>G	ESP,ExAC,TOPMed,gnomAD
rs1245773661	p.Asn409Tyr	missense variant	-	NC_000006.12:g.83524666A>T	TOPMed
NCI-TCGA novel	p.Asn409Asp	missense variant	-	NC_000006.12:g.83524666A>G	NCI-TCGA
rs200639755	p.Ala411Ser	missense variant	-	NC_000006.12:g.83524672G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749623079	p.Gly413Ser	missense variant	-	NC_000006.12:g.83524678G>A	ExAC,gnomAD
rs150074323	p.Gly413Ala	missense variant	-	NC_000006.12:g.83524679G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly413Asp	missense variant	-	NC_000006.12:g.83524679G>A	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0004096	Asthma	disease	GWASCAT
C0005586	Bipolar Disorder	disease	GWASCAT
C0019209	Hepatomegaly	phenotype	CTD_human
C0158646	Cleft palate with cleft lip	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	IEA

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 PRSS35 mRNA	30723492
C548651	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of PRSS35 mRNA	19933214
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether analog results in decreased expression of PRSS35 mRNA	19095052
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid 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 PRSS35 mRNA	27188386
C496492	abrine	abrine results in decreased expression of PRSS35 mRNA	31054353
C000228	aristolochic acid I	[aristolochic acid I co-treated with aristolochic acid II] results in decreased expression of PRSS35 mRNA	23912714
C042310	aristolochic acid II	[aristolochic acid I co-treated with aristolochic acid II] results in decreased expression of PRSS35 mRNA	23912714
C547126	AZM551248	AZM551248 results in increased expression of PRSS35 mRNA	22323515
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of PRSS35 mRNA	21839799
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of PRSS35 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of PRSS35 mRNA	28079927
C006780	bisphenol A	bisphenol A affects the expression of PRSS35 mRNA	25181051
C006780	bisphenol A	bisphenol A results in decreased expression of PRSS35 mRNA	30816183
C000611646	bisphenol F	bisphenol F results in increased expression of PRSS35 mRNA	30951980
C584509	C646 compound	C646 compound results in increased expression of PRSS35 mRNA	23698071
D002509	Cephaloridine	Cephaloridine results in decreased expression of PRSS35 mRNA	18500788
D002994	Clofibrate	Clofibrate results in decreased expression of PRSS35 mRNA	22300585
D003471	Cuprizone	Cuprizone results in increased expression of PRSS35 mRNA	27523638
D003561	Cytarabine	Cytarabine results in decreased expression of PRSS35 mRNA	21198554
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of PRSS35 mRNA	21266533
D004026	Dieldrin	Dieldrin results in decreased expression of PRSS35 mRNA	28385952
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid 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 PRSS35 mRNA	27188386
D004726	Endosulfan	Endosulfan results in decreased expression of PRSS35 mRNA	29391264
D004958	Estradiol	Estradiol affects the expression of PRSS35 mRNA	22574217
D004958	Estradiol	Estradiol results in increased expression of PRSS35 mRNA	19484750
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of PRSS35 mRNA	12075121
D019833	Genistein	Genistein results in increased expression of PRSS35 mRNA	21810550
C010974	glyphosate	[Surface-Active Agents co-treated with glyphosate] results in increased expression of PRSS35 mRNA	22467014
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of PRSS35 mRNA	28001369
C086401	pentabromodiphenyl ether	pentabromodiphenyl ether analog results in decreased expression of PRSS35 mRNA	19095052
C086401	pentabromodiphenyl ether	pentabromodiphenyl ether results in decreased expression of PRSS35 mRNA	26705709
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of PRSS35 mRNA	19710929
D010936	Plant Extracts	Plant Extracts results in decreased expression of PRSS35 mRNA	23557933
D011374	Progesterone	Progesterone results in decreased expression of PRSS35 mRNA	23018184
C005556	propionaldehyde	propionaldehyde results in increased expression of PRSS35 mRNA	26079696
D011441	Propylthiouracil	Propylthiouracil results in increased expression of PRSS35 mRNA	24780913
C502851	quinocetone	quinocetone results in increased expression of PRSS35 mRNA	27046791
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of PRSS35 mRNA	25895662
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of PRSS35 mRNA	19073995
C009277	sodium arsenate	sodium arsenate results in increased expression of PRSS35 mRNA	21795629
C017947	sodium arsenite	sodium arsenite results in increased expression of PRSS35 mRNA	29361514
C016104	sodium bichromate	sodium bichromate results in decreased expression of PRSS35 mRNA	24612858
D000077210	Sunitinib	Sunitinib results in decreased expression of PRSS35 mRNA	31533062
D013501	Surface-Active Agents	[Surface-Active Agents co-treated with glyphosate] results in increased expression of PRSS35 mRNA	22467014
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of PRSS35 mRNA	19933214
D014212	Tretinoin	Tretinoin results in increased expression of PRSS35 mRNA	21934132
C012589	trichostatin A	trichostatin A results in increased expression of PRSS35 mRNA	24935251
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid 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 PRSS35 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of PRSS35 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of PRSS35 mRNA	19101580; 23179753; 24383497; 26272509; 27188386; 28001369;
C025643	vinclozolin	vinclozolin results in decreased expression of PRSS35 mRNA	20566332
D015032	Zinc	Zinc deficiency results in increased expression of PRSS35 mRNA	19111725
D015032	Zinc	Zinc inhibits the reaction [Zinc deficiency results in increased expression of PRSS35 mRNA]	19111725
D000077211	Zoledronic Acid	Zoledronic Acid results in increased expression of PRSS35 mRNA	24714768

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0964	Secreted
KW-0721	Serine protease homolog
KW-0732	Signal

Interpro

InterPro ID	InterPro Term
IPR009003	Peptidase_S1_PA
IPR001254	Trypsin_dom
IPR018114	TRYPSIN_HIS

PROSITE

PROSITE ID	PROSITE Term
PS00134	TRYPSIN_HIS

Pfam

Pfam ID	Pfam Term
PF00089	Trypsin

Gene: PRSS35

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

Identified variants/mutations related to cleft phenotype

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