CleftGeneDB-Search

Gene: PAX3

Basic information

Tag	Content
Uniprot ID	P23760; G5E9C1; Q16448; Q494Z3; Q494Z4; Q53T90; Q6GSJ9; Q86UQ2; Q86UQ3;
Entrez ID	5077
Genbank protein ID	EAW70796.1; AAP13873.1; AAB30168.1; AAB21476.1; AAI01303.1; AAH63547.1; AAI01302.1; BAF83967.1; EAW70794.1; AAI01300.1; AAY14900.1; AAT47737.1; AAB30167.1; CAA33145.1; AAA91849.1; EAW70789.1; AAA80573.1; AAI14364.1; AAA80574.1; EAW70791.1; AAI01301.1; AAP13872.1;
Genbank nucleotide ID	NM_000438.5; NM_181457.3; NM_181459.3; NM_181461.3; NM_013942.4; NM_181458.3; NM_001127366.2; NM_181460.3;
Ensembl protein ID	ENSP00000258387; ENSP00000342092; ENSP00000375922; ENSP00000386817; ENSP00000343052; ENSP00000338767; ENSP00000386750; ENSP00000375921;
Ensembl nucleotide ID	ENSG00000135903
Gene name	Paired box protein Pax-3
Gene symbol	PAX3
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	19142206
Functional description	Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10 (PubMed:21965087).
Sequence	MTTLAGAVPR MMRPGPGQNY PRSGFPLEVS TPLGQGRVNQ LGGVFINGRP LPNHIRHKIV 60 EMAHHGIRPC VISRQLRVSH GCVSKILCRY QETGSIRPGA IGGSKPKQVT TPDVEKKIEE 120 YKRENPGMFS WEIRDKLLKD AVCDRNTVPS VSSISRILRS KFGKGEEEEA DLERKEAEES 180 EKKAKHSIDG ILSERASAPQ SDEGSDIDSE PDLPLKRKQR RSRTTFTAEQ LEELERAFER 240 THYPDIYTRE ELAQRAKLTE ARVQVWFSNR RARWRKQAGA NQLMAFNHLI PGGFPPTAMP 300 TLPTYQLSET SYQPTSIPQA VSDPSSTVHR PQPLPPSTVH QSTIPSNPDS SSAYCLPSTR 360 HGFSSYTDSF VPPSGPSNPM NPTIGNGLSP QVMGLLTNHG GVPHQPQTDY ALSPLTGGLE 420 PTTTVSASCS QRLDHMKSLD SLPTSQSYCP PTYSTTGYSM DPVTGYQYGQ YGQSKPWTF 479

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

PDB ID
3CMY

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	PAX3	540951	F1MTX0			Bos taurus	Prediction	More>>
1:1 ortholog	PAX3		A0A452FR15			Capra hircus	Prediction	More>>
1:1 ortholog	PAX3	5077	P23760			Homo sapiens	Publication	More>>
1:1 ortholog	Pax3	18505	P24610	CPO	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	PAX3		H2QJH9			Pan troglodytes	Prediction	More>>
1:1 ortholog	PAX3		I3LAG7			Sus scrofa	Prediction	More>>
1:1 ortholog	Pax3	114502	F1LMV3			Rattus norvegicus	Prediction	More>>
1:1 ortholog	pax3a		F1R7Y4			Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1293119743	p.Ala5Pro	missense variant	-	NC_000002.12:g.222298603C>G	gnomAD
rs1278926101	p.Ala5Gly	missense variant	-	NC_000002.12:g.222298602G>C	gnomAD
rs909763037	p.Gly6Asp	missense variant	-	NC_000002.12:g.222298599C>T	TOPMed,gnomAD
rs1414840887	p.Gly6Arg	missense variant	-	NC_000002.12:g.222298600C>G	gnomAD
rs909763037	p.Gly6Ala	missense variant	-	NC_000002.12:g.222298599C>G	TOPMed,gnomAD
rs778065633	p.Ala7Ser	missense variant	-	NC_000002.12:g.222298597C>A	ExAC,TOPMed,gnomAD
rs758491787	p.Val8Leu	missense variant	-	NC_000002.12:g.222298594C>G	ExAC,gnomAD
COSM4922862	p.Val8Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222298594C>A	NCI-TCGA Cosmic
rs542662595	p.Pro9Leu	missense variant	-	NC_000002.12:g.222298590G>A	1000Genomes,gnomAD
rs1407858751	p.Met11Thr	missense variant	-	NC_000002.12:g.222298584A>G	TOPMed,gnomAD
rs1407858751	p.Met11Lys	missense variant	-	NC_000002.12:g.222298584A>T	TOPMed,gnomAD
rs753770320	p.Met12Ile	missense variant	-	NC_000002.12:g.222298580C>T	ExAC,gnomAD
RCV000657511	p.Pro14Ter	frameshift	-	NC_000002.12:g.222298578del	ClinVar
rs755894806	p.Gly15Ser	missense variant	-	NC_000002.12:g.222298573C>T	ExAC,gnomAD
rs1187320867	p.Gly15Val	missense variant	-	NC_000002.12:g.222298572C>A	gnomAD
rs886055676	p.Pro16Leu	missense variant	-	NC_000002.12:g.222298569G>A	-
rs767173518	p.Pro16Ser	missense variant	-	NC_000002.12:g.222298570G>A	ExAC,gnomAD
RCV000292474	p.Pro16Leu	missense variant	Waardenburg syndrome	NC_000002.12:g.222298569G>A	ClinVar
RCV000386781	p.Pro16Leu	missense variant	Craniofacial deafness hand syndrome (CDHS)	NC_000002.12:g.222298569G>A	ClinVar
rs1232210323	p.Gly17Glu	missense variant	-	NC_000002.12:g.222298566C>T	TOPMed
rs1305782395	p.Asn19Ser	missense variant	-	NC_000002.12:g.222298560T>C	TOPMed
rs1219628140	p.Pro21Leu	missense variant	-	NC_000002.12:g.222298554G>A	TOPMed,gnomAD
rs762491076	p.Pro21Ser	missense variant	-	NC_000002.12:g.222298555G>A	ExAC,gnomAD
rs1026986168	p.Arg22Cys	missense variant	-	NC_000002.12:g.222298552G>A	gnomAD
rs1026986168	p.Arg22Ser	missense variant	-	NC_000002.12:g.222298552G>T	gnomAD
NCI-TCGA novel	p.Arg22Leu	missense variant	-	NC_000002.12:g.222298551C>A	NCI-TCGA
rs866429341	p.Gly24Arg	missense variant	-	NC_000002.12:g.222298546C>T	gnomAD
rs200928747	p.Gly24Val	missense variant	-	NC_000002.12:g.222298545C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs866429341	p.Gly24Trp	missense variant	-	NC_000002.12:g.222298546C>A	gnomAD
rs1259174817	p.Pro26Leu	missense variant	-	NC_000002.12:g.222298539G>A	TOPMed
rs984035860	p.Glu28Lys	missense variant	-	NC_000002.12:g.222298534C>T	TOPMed
rs1478008842	p.Ser30Phe	missense variant	-	NC_000002.12:g.222297210G>A	gnomAD
rs762389938	p.Thr31Ser	missense variant	-	NC_000002.12:g.222297207G>C	ExAC,TOPMed,gnomAD
rs763759876	p.Thr31Ala	missense variant	-	NC_000002.12:g.222297208T>C	ExAC,gnomAD
rs752191611	p.Pro32Ala	missense variant	-	NC_000002.12:g.222297205G>C	ExAC,gnomAD
rs752191611	p.Pro32Ser	missense variant	-	NC_000002.12:g.222297205G>A	ExAC,gnomAD
rs1236927078	p.Pro32Leu	missense variant	-	NC_000002.12:g.222297204G>A	gnomAD
rs777273543	p.Gly34Cys	missense variant	-	NC_000002.12:g.222297199C>A	ExAC,TOPMed,gnomAD
rs777273543	p.Gly34Arg	missense variant	-	NC_000002.12:g.222297199C>G	ExAC,TOPMed,gnomAD
COSM1405795	p.Arg37His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222297189C>T	NCI-TCGA Cosmic
COSM5471448	p.Val38Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222297187C>T	NCI-TCGA Cosmic
rs1461573611	p.Gln40Ter	stop gained	-	NC_000002.12:g.222297181G>A	gnomAD
rs1175819640	p.Leu41Arg	missense variant	-	NC_000002.12:g.222297177A>C	gnomAD
rs773327091	p.Gly42Cys	missense variant	-	NC_000002.12:g.222297175C>A	ExAC
RCV000626392	p.Gly42Arg	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297175C>G	ClinVar
rs773327091	p.Gly42Arg	missense variant	-	NC_000002.12:g.222297175C>G	ExAC
NCI-TCGA novel	p.Gly42Ser	missense variant	-	NC_000002.12:g.222297175C>T	NCI-TCGA
COSM3909683	p.Val44Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222297168A>G	NCI-TCGA Cosmic
VAR_003790	p.Phe45Leu	Missense	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
rs1342248849	p.Ile46Val	missense variant	-	NC_000002.12:g.222297163T>C	TOPMed
RCV000660199	p.Ile46Ter	frameshift	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297163dup	ClinVar
NCI-TCGA novel	p.Ile46Thr	missense variant	-	NC_000002.12:g.222297162A>G	NCI-TCGA
rs104893653	p.Asn47His	missense variant	-	NC_000002.12:g.222297160T>G	-
rs104893653	p.Asn47His	missense variant	Waardenburg syndrome 3 (WS3)	NC_000002.12:g.222297160T>G	UniProt,dbSNP
VAR_003791	p.Asn47His	missense variant	Waardenburg syndrome 3 (WS3)	NC_000002.12:g.222297160T>G	UniProt
RCV000004435	p.Asn47His	missense variant	Klein-Waardenberg's syndrome (WS3)	NC_000002.12:g.222297160T>G	ClinVar
rs104893652	p.Asn47Lys	missense variant	-	NC_000002.12:g.222297158G>C	-
rs104893652	p.Asn47Lys	missense variant	Craniofacial-deafness-hand syndrome (CDHS)	NC_000002.12:g.222297158G>C	UniProt,dbSNP
VAR_003792	p.Asn47Lys	missense variant	Craniofacial-deafness-hand syndrome (CDHS)	NC_000002.12:g.222297158G>C	UniProt
RCV000004434	p.Asn47Lys	missense variant	Craniofacial deafness hand syndrome (CDHS)	NC_000002.12:g.222297158G>C	ClinVar
NCI-TCGA novel	p.Asn47Lys	missense variant	-	NC_000002.12:g.222297158G>T	NCI-TCGA
rs1419548558	p.Gly48Ser	missense variant	-	NC_000002.12:g.222297157C>T	gnomAD
rs1419548558	p.Gly48Cys	missense variant	-	NC_000002.12:g.222297157C>A	gnomAD
RCV000626396	p.Gly48Arg	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297157C>G	ClinVar
RCV000626390	p.Gly48Cys	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297157C>A	ClinVar
rs1419548558	p.Gly48Arg	missense variant	-	NC_000002.12:g.222297157C>G	gnomAD
rs1174935987	p.Arg49Gly	missense variant	-	NC_000002.12:g.222297154T>C	gnomAD
NCI-TCGA novel	p.Arg49SerPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.222297152_222297153insGG	NCI-TCGA
rs104893650	p.Pro50Leu	missense variant	Waardenburg syndrome type 1 (ws1)	NC_000002.12:g.222297150G>A	-
rs104893650	p.Pro50Leu	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222297150G>A	UniProt,dbSNP
VAR_003793	p.Pro50Leu	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222297150G>A	UniProt
rs1480053384	p.Pro50Ala	missense variant	-	NC_000002.12:g.222297151G>C	gnomAD
RCV000004426	p.Pro50Leu	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297150G>A	ClinVar
rs1279989885	p.Arg56Cys	missense variant	-	NC_000002.12:g.222297133G>A	gnomAD
rs267606931	p.Arg56Leu	missense variant	Waardenburg syndrome type 1 (ws1)	NC_000002.12:g.222297132C>A	-
rs267606931	p.Arg56Leu	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222297132C>A	UniProt,dbSNP
VAR_003794	p.Arg56Leu	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222297132C>A	UniProt
RCV000004438	p.Arg56Leu	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297132C>A	ClinVar
rs1210507532	p.Lys58Gln	missense variant	-	NC_000002.12:g.222297127T>G	TOPMed
rs1241473167	p.Lys58Arg	missense variant	-	NC_000002.12:g.222297126T>C	TOPMed
VAR_003795	p.Ile59Phe	Missense	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
VAR_003796	p.Ile59Asn	Missense	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
VAR_003797	p.Val60Met	Missense	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
VAR_003798	p.Met62Val	Missense	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
rs1484882324	p.Ala63Val	missense variant	-	NC_000002.12:g.222297111G>A	TOPMed
VAR_003799	p.Ala63_Ile67del	inframe_deletion	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
rs1190403023	p.His65Asn	missense variant	-	NC_000002.12:g.222297106G>T	TOPMed
rs1319212514	p.His65Gln	missense variant	-	NC_000002.12:g.222297104G>C	gnomAD
NCI-TCGA novel	p.His65Gln	missense variant	-	NC_000002.12:g.222297104G>T	NCI-TCGA
NCI-TCGA novel	p.His65Tyr	missense variant	-	NC_000002.12:g.222297106G>A	NCI-TCGA
rs1305548051	p.Gly66Ser	missense variant	-	NC_000002.12:g.222297103C>T	gnomAD
COSM4091889	p.Ile67Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222297099A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg68Trp	missense variant	-	NC_000002.12:g.222297097G>A	NCI-TCGA
rs1356246522	p.Cys70Ter	stop gained	-	NC_000002.12:g.222297089G>T	gnomAD
RCV000660200	p.Cys70Ter	nonsense	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297089G>T	ClinVar
rs867285013	p.Val71Phe	missense variant	-	NC_000002.12:g.222297088C>A	gnomAD
rs867285013	p.Val71Ile	missense variant	-	NC_000002.12:g.222297088C>T	gnomAD
rs1553593928	p.Ser73Leu	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222297081G>A	UniProt,dbSNP
VAR_013640	p.Ser73Leu	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222297081G>A	UniProt
rs1553593928	p.Ser73Leu	missense variant	-	NC_000002.12:g.222297081G>A	-
RCV000660201	p.Ser73Leu	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297081G>A	ClinVar
rs1553593925	p.Leu76Arg	missense variant	-	NC_000002.12:g.222297072A>C	-
RCV000660202	p.Leu76Arg	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297072A>C	ClinVar
rs1315006275	p.Arg77Leu	missense variant	-	NC_000002.12:g.222297069C>A	gnomAD
COSM1405792	p.Arg77His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222297069C>T	NCI-TCGA Cosmic
rs1553593917	p.Val78Leu	missense variant	-	NC_000002.12:g.222297067C>A	-
RCV000660203	p.Val78Leu	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297067C>A	ClinVar
NCI-TCGA novel	p.Val78Met	missense variant	-	NC_000002.12:g.222297067C>T	NCI-TCGA
VAR_017534	p.Val78Met	Missense	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
rs387906947	p.His80Asp	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222297061G>C	UniProt,dbSNP
VAR_079619	p.His80Asp	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222297061G>C	UniProt
rs387906947	p.His80Asp	missense variant	Waardenburg syndrome type 1 (ws1)	NC_000002.12:g.222297061G>C	-
RCV000023560	p.His80Asp	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297061G>C	ClinVar
rs483353059	p.Gly81Arg	missense variant	-	NC_000002.12:g.222297058C>G	ExAC,TOPMed,gnomAD
rs483353059	p.Gly81Cys	missense variant	-	NC_000002.12:g.222297058C>A	ExAC,TOPMed,gnomAD
rs483353059	p.Gly81Ser	missense variant	-	NC_000002.12:g.222297058C>T	ExAC,TOPMed,gnomAD
RCV000004430	p.Gly81Ala	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297057C>G	ClinVar
rs587776586	p.Gly81Ala	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222297057C>G	UniProt,dbSNP
VAR_003800	p.Gly81Ala	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222297057C>G	UniProt
rs587776586	p.Gly81Ala	missense variant	Waardenburg syndrome type 1 (ws1)	NC_000002.12:g.222297057C>G	-
RCV000119819	p.Gly81Cys	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297058C>A	ClinVar
NCI-TCGA novel	p.Gly81Asp	missense variant	-	NC_000002.12:g.222297057C>T	NCI-TCGA
rs777297575	p.Cys82Trp	missense variant	-	NC_000002.12:g.222297053G>C	ExAC,gnomAD
rs777297575	p.Cys82Ter	stop gained	-	NC_000002.12:g.222297053G>T	ExAC,gnomAD
RCV000826182	p.Cys82Trp	missense variant	Rare genetic deafness	NC_000002.12:g.222297053G>C	ClinVar
RCV000660204	p.Cys82Trp	missense variant	Klein-Waardenberg's syndrome (WS3)	NC_000002.12:g.222297053G>C	ClinVar
RCV000660205	p.Cys82Ter	nonsense	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297053G>T	ClinVar
rs1173262760	p.Val83Phe	missense variant	-	NC_000002.12:g.222297052C>A	TOPMed
COSM1017016	p.Val83Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222297052C>T	NCI-TCGA Cosmic
rs104893651	p.Ser84Phe	missense variant	Waardenburg syndrome type 1 (ws1)	NC_000002.12:g.222297048G>A	-
rs104893651	p.Ser84Phe	missense variant	Waardenburg syndrome 3 (WS3)	NC_000002.12:g.222297048G>A	UniProt,dbSNP
VAR_003801	p.Ser84Phe	missense variant	Waardenburg syndrome 3 (WS3)	NC_000002.12:g.222297048G>A	UniProt
RCV000004432	p.Ser84Phe	missense variant	Klein-Waardenberg's syndrome (WS3)	NC_000002.12:g.222297048G>A	ClinVar
RCV000004433	p.Ser84Phe	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297048G>A	ClinVar
VAR_003802	p.Lys85Glu	Missense	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
RCV000721953	p.Ile86Phe	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297043T>A	ClinVar
NCI-TCGA novel	p.Leu87Arg	missense variant	-	NC_000002.12:g.222297039A>C	NCI-TCGA
RCV000004437	p.Tyr90His	missense variant	Klein-Waardenberg's syndrome (WS3)	NC_000002.12:g.222297031A>G	ClinVar
rs1553593874	p.Tyr90Cys	missense variant	-	NC_000002.12:g.222297030T>C	-
RCV000660206	p.Tyr90Cys	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297030T>C	ClinVar
RCV000004427	p.Tyr90Ter	frameshift	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297020_222297033del	ClinVar
rs104893654	p.Tyr90His	missense variant	-	NC_000002.12:g.222297031A>G	-
rs104893654	p.Tyr90His	missense variant	Waardenburg syndrome 3 (WS3)	NC_000002.12:g.222297031A>G	UniProt,dbSNP
VAR_017535	p.Tyr90His	missense variant	Waardenburg syndrome 3 (WS3)	NC_000002.12:g.222297031A>G	UniProt
rs758012824	p.Arg97Ser	missense variant	-	NC_000002.12:g.222297010G>T	ExAC,gnomAD
rs1553593856	p.Pro98Leu	missense variant	-	NC_000002.12:g.222297006G>A	-
RCV000660207	p.Pro98Leu	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297006G>A	ClinVar
NCI-TCGA novel	p.Pro98Ser	missense variant	-	NC_000002.12:g.222297007G>A	NCI-TCGA
rs1257524664	p.Gly99Ser	missense variant	-	NC_000002.12:g.222297004C>T	gnomAD
rs1189463428	p.Gly99Asp	missense variant	-	NC_000002.12:g.222297003C>T	gnomAD
rs1189463428	p.Gly99Asp	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222297003C>T	UniProt,dbSNP
VAR_003803	p.Gly99Asp	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222297003C>T	UniProt
rs1206058118	p.Gly103Ser	missense variant	-	NC_000002.12:g.222296992C>T	gnomAD
rs1487084220	p.Ser104Gly	missense variant	-	NC_000002.12:g.222296989T>C	gnomAD
rs764868613	p.Pro106Ala	missense variant	-	NC_000002.12:g.222296983G>C	ExAC,gnomAD
rs762048678	p.Gln108Pro	missense variant	-	NC_000002.12:g.222295656T>G	ExAC,gnomAD
rs774660138	p.Thr111Lys	missense variant	-	NC_000002.12:g.222295647G>T	ExAC,gnomAD
rs367576138	p.Asp113Glu	missense variant	-	NC_000002.12:g.222295640G>C	ESP,TOPMed,gnomAD
rs763028698	p.Val114Leu	missense variant	-	NC_000002.12:g.222295639C>A	ExAC,gnomAD
rs763028698	p.Val114Met	missense variant	-	NC_000002.12:g.222295639C>T	ExAC,gnomAD
NCI-TCGA novel	p.Val114Glu	missense variant	-	NC_000002.12:g.222295638A>T	NCI-TCGA
rs1188288131	p.Lys116Arg	missense variant	-	NC_000002.12:g.222295632T>C	gnomAD
rs1455014714	p.Lys117Thr	missense variant	-	NC_000002.12:g.222295629T>G	gnomAD
COSM4822893	p.Glu119Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222295624C>T	NCI-TCGA Cosmic
rs769852829	p.Tyr121Phe	missense variant	-	NC_000002.12:g.222295617T>A	ExAC,gnomAD
RCV000004431	p.Lys122Ter	frameshift	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222295611_222295615del	ClinVar
rs1451539397	p.Arg123Gly	missense variant	-	NC_000002.12:g.222295612T>C	TOPMed,gnomAD
COSM4822526	p.Arg123Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222295611C>G	NCI-TCGA Cosmic
rs1386561980	p.Asn125Lys	missense variant	-	NC_000002.12:g.222295604G>T	TOPMed
COSM72080	p.Asn125Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222295604G>C	NCI-TCGA Cosmic
COSM4091883	p.Asn125Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222295605T>G	NCI-TCGA Cosmic
rs747035956	p.Pro126Leu	missense variant	-	NC_000002.12:g.222295602G>A	ExAC,TOPMed,gnomAD
rs1337651455	p.Gly127Asp	missense variant	-	NC_000002.12:g.222295599C>T	gnomAD
rs771950919	p.Met128Ile	missense variant	-	NC_000002.12:g.222295595C>T	ExAC,gnomAD
rs140921855	p.Met128Val	missense variant	-	NC_000002.12:g.222295597T>C	ESP,ExAC,TOPMed,gnomAD
RCV000004436	p.Phe129Ter	frameshift	Klein-Waardenberg's syndrome (WS3)	NC_000002.12:g.222295582_222295594del	ClinVar
rs570065301	p.Trp131Ser	missense variant	-	NC_000002.12:g.222295587C>G	1000Genomes,ExAC,gnomAD
rs1371533990	p.Trp131Arg	missense variant	-	NC_000002.12:g.222295588A>T	gnomAD
NCI-TCGA novel	p.Arg134Ter	stop gained	-	NC_000002.12:g.222295579G>A	NCI-TCGA
rs1390228922	p.Asp135Gly	missense variant	-	NC_000002.12:g.222295575T>C	TOPMed
rs1305407286	p.Leu138Phe	missense variant	-	NC_000002.12:g.222295567G>A	TOPMed
RCV000223708	p.Lys139Ter	nonsense	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222295564T>A	ClinVar
rs876661317	p.Lys139Ter	stop gained	-	NC_000002.12:g.222295564T>A	-
rs1346524816	p.Asp140Glu	missense variant	-	NC_000002.12:g.222295559G>T	TOPMed
rs1193030438	p.Val142Phe	missense variant	-	NC_000002.12:g.222295555C>A	gnomAD
rs143780687	p.Asp144Tyr	missense variant	-	NC_000002.12:g.222295549C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770182620	p.Thr147Ile	missense variant	-	NC_000002.12:g.222295539G>A	gnomAD
COSM210140	p.Val148Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222295537C>T	NCI-TCGA Cosmic
rs761711527	p.Ser152Asn	missense variant	-	NC_000002.12:g.222294298C>T	ExAC,gnomAD
rs1240126511	p.Ser153Thr	missense variant	-	NC_000002.12:g.222294296A>T	TOPMed
COSM4091880	p.Ser153Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222294295G>T	NCI-TCGA Cosmic
RCV000626395	p.Ser155Ter	frameshift	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222294289del	ClinVar
rs768608755	p.Arg156His	missense variant	-	NC_000002.12:g.222294286C>T	ExAC,TOPMed,gnomAD
rs768608755	p.Arg156Leu	missense variant	-	NC_000002.12:g.222294286C>A	ExAC,TOPMed,gnomAD
rs774422308	p.Arg156Cys	missense variant	-	NC_000002.12:g.222294287G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg156Pro	missense variant	-	NC_000002.12:g.222294286C>G	NCI-TCGA
NCI-TCGA novel	p.Ile157Val	missense variant	-	NC_000002.12:g.222294284T>C	NCI-TCGA
rs1165702620	p.Arg159Lys	missense variant	-	NC_000002.12:g.222294277C>T	gnomAD
rs894521557	p.Ser160Asn	missense variant	-	NC_000002.12:g.222294274C>T	TOPMed,gnomAD
RCV000660209	p.Lys161Ter	frameshift	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222294269_222294271delinsTA	ClinVar
rs1174328913	p.Phe162Leu	missense variant	-	NC_000002.12:g.222294267G>C	TOPMed
rs148977636	p.Phe162Leu	missense variant	-	NC_000002.12:g.222294269A>G	ESP,ExAC,TOPMed,gnomAD
rs775317769	p.Gly163Arg	missense variant	-	NC_000002.12:g.222294266C>G	ExAC,TOPMed,gnomAD
rs1003156769	p.Gly163Glu	missense variant	-	NC_000002.12:g.222294265C>T	TOPMed
rs1475865343	p.Lys164Arg	missense variant	-	NC_000002.12:g.222294262T>C	gnomAD
NCI-TCGA novel	p.Gly165Ser	missense variant	-	NC_000002.12:g.222294260C>T	NCI-TCGA
rs1217702426	p.Glu168Lys	missense variant	-	NC_000002.12:g.222294251C>T	TOPMed,gnomAD
rs878853019	p.Glu169Lys	missense variant	-	NC_000002.12:g.222294248C>T	-
RCV000224497	p.Glu169Lys	missense variant	-	NC_000002.12:g.222294248C>T	ClinVar
rs1553592728	p.Ala170Thr	missense variant	-	NC_000002.12:g.222294245C>T	-
rs376921556	p.Ala170Asp	missense variant	-	NC_000002.12:g.222294244G>T	ESP,TOPMed
RCV000611258	p.Ala170Thr	missense variant	-	NC_000002.12:g.222294245C>T	ClinVar
rs780627234	p.Leu172Ser	missense variant	-	NC_000002.12:g.222294238A>G	ExAC
rs770472955	p.Glu173Asp	missense variant	-	NC_000002.12:g.222294234C>G	ExAC,gnomAD
rs747555465	p.Arg174Thr	missense variant	-	NC_000002.12:g.222294232C>G	ExAC,gnomAD
rs116473352	p.Lys175Asn	missense variant	-	NC_000002.12:g.222294228C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM4091877	p.Lys175Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222294230T>C	NCI-TCGA Cosmic
RCV000219480	p.Lys175Asn	missense variant	-	NC_000002.12:g.222294228C>G	ClinVar
RCV000660210	p.Glu176Ter	frameshift	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222294230dup	ClinVar
rs753019744	p.Ala177Thr	missense variant	-	NC_000002.12:g.222294224C>T	ExAC,gnomAD
RCV000660212	p.Ala177Ter	frameshift	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222294222_222294223insAG	ClinVar
rs753019744	p.Ala177Ser	missense variant	-	NC_000002.12:g.222294224C>A	ExAC,gnomAD
RCV000601148	p.Ser180Arg	missense variant	-	NC_000002.12:g.222294213G>C	ClinVar
RCV000765615	p.Ser180Arg	missense variant	Alveolar rhabdomyosarcoma (RMS2)	NC_000002.12:g.222294213G>C	ClinVar
rs200679164	p.Ser180Arg	missense variant	-	NC_000002.12:g.222294213G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145331372	p.Glu181Lys	missense variant	-	NC_000002.12:g.222294212C>T	ESP,TOPMed
rs201489986	p.Lys182Glu	missense variant	-	NC_000002.12:g.222294209T>C	1000Genomes,gnomAD
rs201489986	p.Lys182Gln	missense variant	-	NC_000002.12:g.222294209T>G	1000Genomes,gnomAD
rs766433399	p.Lys183Gln	missense variant	-	NC_000002.12:g.222294206T>G	ExAC,TOPMed,gnomAD
rs760803903	p.Ala184Thr	missense variant	-	NC_000002.12:g.222294203C>T	ExAC
RCV000004429	p.His186Ter	frameshift	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222294195_222294196GT[1]	ClinVar
RCV000023561	p.His186Ter	frameshift	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222294197del	ClinVar
RCV000221736	p.Ser187Arg	missense variant	-	NC_000002.12:g.222294192G>C	ClinVar
rs375978379	p.Ser187Arg	missense variant	-	NC_000002.12:g.222294192G>C	ESP,ExAC,TOPMed,gnomAD
rs759181003	p.Ile188Met	missense variant	-	NC_000002.12:g.222294189G>C	ExAC,TOPMed,gnomAD
rs775093979	p.Ile188Val	missense variant	-	NC_000002.12:g.222294191T>C	ExAC,TOPMed,gnomAD
rs775093979	p.Ile188Leu	missense variant	-	NC_000002.12:g.222294191T>G	ExAC,TOPMed,gnomAD
rs776316578	p.Asp189Tyr	missense variant	-	NC_000002.12:g.222294188C>A	ExAC,gnomAD
rs776316578	p.Asp189Asn	missense variant	-	NC_000002.12:g.222294188C>T	ExAC,gnomAD
rs1158153326	p.Gly190Asp	missense variant	-	NC_000002.12:g.222294184C>T	TOPMed
rs746473854	p.Ile191Phe	missense variant	-	NC_000002.12:g.222294182T>A	ExAC,TOPMed,gnomAD
rs199560470	p.Ile191Thr	missense variant	-	NC_000002.12:g.222294181A>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000214708	p.Ile191Thr	missense variant	-	NC_000002.12:g.222294181A>G	ClinVar
rs80081387	p.Ser193Arg	missense variant	-	NC_000002.12:g.222294174G>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM3838712	p.Ser193Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222294175C>T	NCI-TCGA Cosmic
rs80081387	p.Ser193Arg	missense variant	-	NC_000002.12:g.222294174G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs148454691	p.Glu194Lys	missense variant	-	NC_000002.12:g.222294173C>T	ESP,ExAC,TOPMed,gnomAD
RCV000606544	p.Glu194Lys	missense variant	-	NC_000002.12:g.222294173C>T	ClinVar
RCV000765614	p.Glu194Lys	missense variant	Alveolar rhabdomyosarcoma (RMS2)	NC_000002.12:g.222294173C>T	ClinVar
rs1220219700	p.Arg195Ter	stop gained	-	NC_000002.12:g.222294170G>A	gnomAD
rs779201672	p.Arg195Pro	missense variant	-	NC_000002.12:g.222294169C>G	ExAC,gnomAD
RCV000579086	p.Arg195Ter	nonsense	-	NC_000002.12:g.222294170G>A	ClinVar
NCI-TCGA novel	p.Arg195Gln	missense variant	-	NC_000002.12:g.222294169C>T	NCI-TCGA
rs1246737713	p.Ser197Leu	missense variant	-	NC_000002.12:g.222232280G>A	gnomAD
rs1246737713	p.Ser197Leu	missense variant	-	NC_000002.12:g.222232280G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala198Thr	missense variant	-	NC_000002.12:g.222232278C>T	NCI-TCGA
NCI-TCGA novel	p.Ala198Glu	missense variant	-	NC_000002.12:g.222232277G>T	NCI-TCGA
rs762351099	p.Pro199Arg	missense variant	-	NC_000002.12:g.222232274G>C	ExAC,gnomAD
rs1292183820	p.Gln200Lys	missense variant	-	NC_000002.12:g.222232272G>T	gnomAD
rs1057524511	p.Ser201Ter	stop gained	-	NC_000002.12:g.222232268G>C	-
rs1057524511	p.Ser201Ter	stop gained	-	NC_000002.12:g.222232268G>C	NCI-TCGA
RCV000439995	p.Ser201Ter	nonsense	-	NC_000002.12:g.222232268G>C	ClinVar
rs753280020	p.Asp202Ala	missense variant	-	NC_000002.12:g.222232265T>G	ExAC,gnomAD
rs765799185	p.Gly204Val	missense variant	-	NC_000002.12:g.222232259C>A	ExAC,gnomAD
rs1355952266	p.Gly204Ser	missense variant	-	NC_000002.12:g.222232260C>T	gnomAD
rs759986156	p.Ile207Thr	missense variant	-	NC_000002.12:g.222232250A>G	ExAC,gnomAD
rs1444227086	p.Leu213Ile	missense variant	-	NC_000002.12:g.222232233A>T	TOPMed
rs1311226697	p.Arg217Lys	missense variant	-	NC_000002.12:g.222232220C>T	TOPMed
NCI-TCGA novel	p.Lys218Arg	missense variant	-	NC_000002.12:g.222232217T>C	NCI-TCGA
rs917104474	p.Arg220Cys	missense variant	-	NC_000002.12:g.222232212G>A	gnomAD
COSM1017014	p.Arg220His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222232211C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg220Ser	missense variant	-	NC_000002.12:g.222232212G>T	NCI-TCGA
NCI-TCGA novel	p.Arg221Ile	missense variant	-	NC_000002.12:g.222232208C>A	NCI-TCGA
rs876657717	p.Arg223Gln	missense variant	-	NC_000002.12:g.222232202C>T	gnomAD
rs772241382	p.Arg223Ter	stop gained	-	NC_000002.12:g.222232203G>A	ExAC,gnomAD
RCV000599259	p.Arg223Ter	nonsense	-	NC_000002.12:g.222232203G>A	ClinVar
RCV000216335	p.Arg223Gln	missense variant	Waardenburg syndrome	NC_000002.12:g.222232202C>T	ClinVar
VAR_079620	p.Arg223_Phe479del	inframe_deletion	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
rs1432016603	p.Thr225Ile	missense variant	-	NC_000002.12:g.222232196G>A	gnomAD
rs775433032	p.Ala228Val	missense variant	-	NC_000002.12:g.222232187G>A	ExAC,TOPMed,gnomAD
rs1455117644	p.Glu229Lys	missense variant	-	NC_000002.12:g.222232185C>T	gnomAD
rs1553575191	p.Leu231Pro	missense variant	-	NC_000002.12:g.222232178A>G	-
RCV000660213	p.Leu231Pro	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222232178A>G	ClinVar
NCI-TCGA novel	p.Leu231Gln	missense variant	-	NC_000002.12:g.222232178A>T	NCI-TCGA
VAR_079621	p.Leu234Pro	Missense	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
rs1248925494	p.Glu235Gly	missense variant	-	NC_000002.12:g.222232166T>C	gnomAD
rs769650688	p.Arg236Ser	missense variant	-	NC_000002.12:g.222232164G>T	ExAC,gnomAD
rs745673188	p.Arg236His	missense variant	-	NC_000002.12:g.222232163C>T	ExAC,TOPMed,gnomAD
rs745673188	p.Arg236His	missense variant	-	NC_000002.12:g.222232163C>T	NCI-TCGA,NCI-TCGA Cosmic
VAR_003804	p.Phe238Ser	Missense	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
rs1211774060	p.Arg240Ile	missense variant	-	NC_000002.12:g.222232151C>A	TOPMed
rs1211774060	p.Arg240Ile	missense variant	-	NC_000002.12:g.222232151C>A	NCI-TCGA Cosmic
rs529347506	p.Thr241Ser	missense variant	-	NC_000002.12:g.222232149T>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000615280	p.Thr241Ser	missense variant	-	NC_000002.12:g.222232149T>A	ClinVar
NCI-TCGA novel	p.His242Asp	missense variant	-	NC_000002.12:g.222232146G>C	NCI-TCGA
RCV000626391	p.Tyr243Ter	frameshift	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222232132_222232144del	ClinVar
rs1553575183	p.Pro244Ser	missense variant	-	NC_000002.12:g.222232140G>A	-
rs777246206	p.Pro244Leu	missense variant	-	NC_000002.12:g.222232139G>A	ExAC,gnomAD
RCV000660214	p.Pro244Ser	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222232140G>A	ClinVar
NCI-TCGA novel	p.Pro244Thr	missense variant	-	NC_000002.12:g.222232140G>T	NCI-TCGA
COSM2156044	p.Asp245Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222232135G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp245Tyr	missense variant	-	NC_000002.12:g.222232137C>A	NCI-TCGA
rs755602285	p.Arg255Lys	missense variant	-	NC_000002.12:g.222232106C>T	ExAC,TOPMed,gnomAD
rs766804639	p.Ala256Val	missense variant	-	NC_000002.12:g.222232103G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala256Pro	missense variant	-	NC_000002.12:g.222232104C>G	NCI-TCGA
NCI-TCGA novel	p.Thr259Ser	missense variant	-	NC_000002.12:g.222232095T>A	NCI-TCGA
rs1427884692	p.Glu260Lys	missense variant	-	NC_000002.12:g.222232092C>T	gnomAD
rs1171269735	p.Ala261Ser	missense variant	-	NC_000002.12:g.222232089C>A	gnomAD
rs886041319	p.Arg262Ter	stop gained	-	NC_000002.12:g.222232086G>A	-
rs1364517233	p.Arg262Gln	missense variant	-	NC_000002.12:g.222232085C>T	NCI-TCGA Cosmic
rs1364517233	p.Arg262Gln	missense variant	-	NC_000002.12:g.222232085C>T	gnomAD
RCV000660215	p.Arg262Ter	nonsense	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222232086G>A	ClinVar
RCV000315662	p.Arg262Ter	nonsense	-	NC_000002.12:g.222232086G>A	ClinVar
NCI-TCGA novel	p.Val263Leu	missense variant	-	NC_000002.12:g.222232083C>A	NCI-TCGA
RCV000660216	p.Gln264Pro	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222232079T>G	ClinVar
rs1553575157	p.Gln264Pro	missense variant	-	NC_000002.12:g.222232079T>G	-
RCV000626394	p.Gln264Ter	nonsense	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222232080G>A	ClinVar
rs1553575159	p.Gln264Ter	stop gained	-	NC_000002.12:g.222232080G>A	-
rs1210072810	p.Val265Ile	missense variant	-	NC_000002.12:g.222221387C>T	gnomAD
VAR_003805	p.Val265Phe	Missense	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
VAR_017536	p.Trp266Cys	Missense	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
COSM1405778	p.Asn269Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222221374T>C	NCI-TCGA Cosmic
RCV000660217	p.Arg270Cys	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222221372G>A	ClinVar
rs1228590199	p.Arg270Cys	missense variant	Waardenburg syndrome 3 (WS3)	NC_000002.12:g.222221372G>A	UniProt,dbSNP
VAR_013619	p.Arg270Cys	missense variant	Waardenburg syndrome 3 (WS3)	NC_000002.12:g.222221372G>A	UniProt
rs1228590199	p.Arg270Cys	missense variant	-	NC_000002.12:g.222221372G>A	gnomAD
NCI-TCGA novel	p.Arg270His	missense variant	-	NC_000002.12:g.222221371C>T	NCI-TCGA
NCI-TCGA novel	p.Arg270Ser	missense variant	-	NC_000002.12:g.222221372G>T	NCI-TCGA
rs1380858784	p.Arg271Cys	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222221369G>A	UniProt,dbSNP
VAR_017537	p.Arg271Cys	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222221369G>A	UniProt
rs1380858784	p.Arg271Cys	missense variant	-	NC_000002.12:g.222221369G>A	gnomAD
rs774528745	p.Arg271His	missense variant	-	NC_000002.12:g.222221368C>T	ExAC,gnomAD
RCV000660218	p.Arg271Cys	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222221369G>A	ClinVar
RCV000660219	p.Arg271His	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222221368C>T	ClinVar
RCV000372931	p.Arg271His	missense variant	-	NC_000002.12:g.222221368C>T	ClinVar
VAR_003806	p.Arg271Gly	Missense	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
NCI-TCGA novel	p.Ala272Glu	missense variant	-	NC_000002.12:g.222221365G>T	NCI-TCGA
NCI-TCGA novel	p.Ala272Val	missense variant	-	NC_000002.12:g.222221365G>A	NCI-TCGA
NCI-TCGA novel	p.Ala272Thr	missense variant	-	NC_000002.12:g.222221366C>T	NCI-TCGA
RCV000660220	p.Arg273Lys	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222221362C>T	ClinVar
rs1020175890	p.Arg273Lys	missense variant	-	NC_000002.12:g.222221362C>T	TOPMed
NCI-TCGA novel	p.Arg273Ile	missense variant	-	NC_000002.12:g.222221362C>A	NCI-TCGA
RCV000760344	p.Trp274Ter	nonsense	-	NC_000002.12:g.222221359C>T	ClinVar
NCI-TCGA novel	p.Lys276HisPheSerTerUnkUnkUnk	frameshift	-	NC_000002.12:g.222221354_222221355insTTCCAGCTATACAGACAGCTTTGTG	NCI-TCGA
COSM1405776	p.Gln277Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.222221351G>A	NCI-TCGA Cosmic
rs1064796626	p.Gly279Arg	missense variant	-	NC_000002.12:g.222221345C>T	TOPMed
COSM1306479	p.Gly279Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222221344C>T	NCI-TCGA Cosmic
RCV000482089	p.Gly279Arg	missense variant	-	NC_000002.12:g.222221345C>T	ClinVar
NCI-TCGA novel	p.Asn281Thr	missense variant	-	NC_000002.12:g.222221338T>G	NCI-TCGA
rs1366586889	p.Met284Thr	missense variant	-	NC_000002.12:g.222221329A>G	gnomAD
rs762975677	p.Ala285Val	missense variant	-	NC_000002.12:g.222221326G>A	ExAC,TOPMed,gnomAD
COSM4091869	p.Ala285Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222221327C>T	NCI-TCGA Cosmic
rs1455713747	p.Asn287Ser	missense variant	-	NC_000002.12:g.222221320T>C	gnomAD
rs776672400	p.His288Arg	missense variant	-	NC_000002.12:g.222221317T>C	gnomAD
rs1259070275	p.Ile290Ser	missense variant	-	NC_000002.12:g.222221311A>C	gnomAD
NCI-TCGA novel	p.Ile290Asn	missense variant	-	NC_000002.12:g.222221311A>T	NCI-TCGA
rs199651907	p.Pro291Ser	missense variant	-	NC_000002.12:g.222221309G>A	-
RCV000608233	p.Pro291Ser	missense variant	-	NC_000002.12:g.222221309G>A	ClinVar
NCI-TCGA novel	p.Pro291His	missense variant	-	NC_000002.12:g.222221308G>T	NCI-TCGA
rs142651003	p.Gly292Arg	missense variant	-	NC_000002.12:g.222221306C>T	ESP,ExAC,TOPMed,gnomAD
rs142651003	p.Gly292Arg	missense variant	-	NC_000002.12:g.222221306C>G	ESP,ExAC,TOPMed,gnomAD
RCV000606448	p.Gly292Ter	frameshift	Rare genetic deafness	NC_000002.12:g.222221309dup	ClinVar
rs760533411	p.Gly293Val	missense variant	-	NC_000002.12:g.222221302C>A	ExAC,gnomAD
rs771990168	p.Phe294Leu	missense variant	-	NC_000002.12:g.222221300A>G	ExAC
COSM1405775	p.Phe294SerPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.222221301C>-	NCI-TCGA Cosmic
RCV000616546	p.Phe294Ter	frameshift	Waardenburg syndrome	NC_000002.12:g.222221306dup	ClinVar
rs747841876	p.Pro295Leu	missense variant	-	NC_000002.12:g.222221296G>A	ExAC,gnomAD
rs868330891	p.Pro300Thr	missense variant	-	NC_000002.12:g.222221282G>T	gnomAD
rs868330891	p.Pro300Ser	missense variant	-	NC_000002.12:g.222221282G>A	gnomAD
rs1287241728	p.Pro303Ser	missense variant	-	NC_000002.12:g.222221273G>A	TOPMed,gnomAD
rs372190620	p.Thr304Lys	missense variant	-	NC_000002.12:g.222221269G>T	ESP,ExAC,TOPMed,gnomAD
rs372190620	p.Thr304Met	missense variant	-	NC_000002.12:g.222221269G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr305Ter	stop gained	-	NC_000002.12:g.222221265G>T	NCI-TCGA
rs756517394	p.Leu307Met	missense variant	-	NC_000002.12:g.222221261G>T	ExAC,TOPMed,gnomAD
rs367982640	p.Ser308Leu	missense variant	-	NC_000002.12:g.222221257G>A	ESP,ExAC,gnomAD
RCV000660221	p.Ser308Ter	frameshift	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222221259del	ClinVar
rs926262801	p.Glu309Asp	missense variant	-	NC_000002.12:g.222221253C>G	TOPMed,gnomAD
rs72960874	p.Thr310Ala	missense variant	-	NC_000002.12:g.222221252T>C	1000Genomes,gnomAD
rs1229892794	p.Ser311Pro	missense variant	-	NC_000002.12:g.222221249A>G	TOPMed,gnomAD
rs970427164	p.Gln313Arg	missense variant	-	NC_000002.12:g.222221242T>C	gnomAD
rs1430643720	p.Pro314Arg	missense variant	-	NC_000002.12:g.222221239G>C	gnomAD
rs2234675	p.Thr315Lys	missense variant	-	NC_000002.12:g.222221236G>T	UniProt,dbSNP
VAR_003807	p.Thr315Lys	missense variant	-	NC_000002.12:g.222221236G>T	UniProt
rs2234675	p.Thr315Lys	missense variant	-	NC_000002.12:g.222221236G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2234675	p.Thr315Ile	missense variant	-	NC_000002.12:g.222221236G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000348942	p.Thr315Lys	missense variant	Craniofacial deafness hand syndrome (CDHS)	NC_000002.12:g.222221236G>T	ClinVar
RCV000626405	p.Thr315Lys	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222221236G>T	ClinVar
RCV000293967	p.Thr315Lys	missense variant	Waardenburg syndrome	NC_000002.12:g.222221236G>T	ClinVar
rs763098498	p.Ser316Tyr	missense variant	-	NC_000002.12:g.222221233G>T	ExAC,TOPMed,gnomAD
rs763098498	p.Ser316Cys	missense variant	-	NC_000002.12:g.222221233G>C	ExAC,TOPMed,gnomAD
rs1389436609	p.Ile317Leu	missense variant	-	NC_000002.12:g.222221231T>G	TOPMed,gnomAD
rs1191289484	p.Pro318Gln	missense variant	-	NC_000002.12:g.222221227G>T	gnomAD
rs1448852118	p.Val321Ala	missense variant	-	NC_000002.12:g.222220351A>G	TOPMed
rs750407449	p.Val321Met	missense variant	-	NC_000002.12:g.222220352C>T	ExAC,gnomAD
rs879255434	p.Asp323Gly	missense variant	-	NC_000002.12:g.222220345T>C	TOPMed
RCV000239295	p.Asp323Gly	missense variant	-	NC_000002.12:g.222220345T>C	ClinVar
rs552530067	p.Ser326Thr	missense variant	-	NC_000002.12:g.222220336C>G	gnomAD
rs767521734	p.Thr327Ile	missense variant	-	NC_000002.12:g.222220333G>A	ExAC,gnomAD
RCV000615536	p.Val328Ile	missense variant	-	NC_000002.12:g.222220331C>T	ClinVar
rs763965838	p.Val328Gly	missense variant	-	NC_000002.12:g.222220330A>C	ExAC,gnomAD
rs149799356	p.Val328Ile	missense variant	-	NC_000002.12:g.222220331C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg330Ile	missense variant	-	NC_000002.12:g.222220324C>A	NCI-TCGA
NCI-TCGA novel	p.Arg330Lys	missense variant	-	NC_000002.12:g.222220324C>T	NCI-TCGA
rs1407769257	p.Pro331Thr	missense variant	-	NC_000002.12:g.222220322G>T	TOPMed,gnomAD
rs1395585771	p.Pro331Arg	missense variant	-	NC_000002.12:g.222220321G>C	gnomAD
NCI-TCGA novel	p.Pro331His	missense variant	-	NC_000002.12:g.222220321G>T	NCI-TCGA
rs551614431	p.Pro333Leu	missense variant	-	NC_000002.12:g.222220315G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs769211597	p.Pro335Leu	missense variant	-	NC_000002.12:g.222220309G>A	ExAC,gnomAD
rs151199924	p.Pro335Ser	missense variant	-	NC_000002.12:g.222220310G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000222451	p.Pro335Ser	missense variant	-	NC_000002.12:g.222220310G>A	ClinVar
rs745347593	p.Pro336Ser	missense variant	-	NC_000002.12:g.222220307G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser337Ile	missense variant	-	NC_000002.12:g.222220303C>A	NCI-TCGA
RCV000660222	p.Gln341Ter	nonsense	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222220292G>A	ClinVar
rs1553572740	p.Gln341Ter	stop gained	-	NC_000002.12:g.222220292G>A	-
rs1179657643	p.Ser342Asn	missense variant	-	NC_000002.12:g.222220288C>T	gnomAD
rs531422957	p.Ser342Arg	missense variant	-	NC_000002.12:g.222220289T>G	ExAC,TOPMed,gnomAD
rs771371167	p.Thr343Met	missense variant	-	NC_000002.12:g.222220285G>A	ExAC,TOPMed,gnomAD
rs1367735600	p.Pro345Ser	missense variant	-	NC_000002.12:g.222220280G>A	TOPMed
NCI-TCGA novel	p.Pro345His	missense variant	-	NC_000002.12:g.222220279G>T	NCI-TCGA
rs778178524	p.Ser346Pro	missense variant	-	NC_000002.12:g.222220277A>G	ExAC,TOPMed,gnomAD
rs748365394	p.Asn347Lys	missense variant	-	NC_000002.12:g.222220272G>C	ExAC,gnomAD
rs1255868855	p.Pro348Leu	missense variant	-	NC_000002.12:g.222220270G>A	gnomAD
NCI-TCGA novel	p.Pro348Ser	missense variant	-	NC_000002.12:g.222220271G>A	NCI-TCGA
rs149804699	p.Asp349Glu	missense variant	-	NC_000002.12:g.222220266G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753902442	p.Ser351Gly	missense variant	-	NC_000002.12:g.222220262T>C	ExAC,gnomAD
rs1197323370	p.Ser351Ile	missense variant	-	NC_000002.12:g.222220261C>A	TOPMed,gnomAD
rs1266309070	p.Ser352Pro	missense variant	-	NC_000002.12:g.222220259A>G	gnomAD
rs1313206820	p.Cys355Tyr	missense variant	-	NC_000002.12:g.222220249C>T	TOPMed,gnomAD
rs1464363854	p.Leu356Val	missense variant	-	NC_000002.12:g.222220247G>C	TOPMed
rs1376906264	p.Pro357Ser	missense variant	-	NC_000002.12:g.222220244G>A	TOPMed,gnomAD
rs751534630	p.Ser358Arg	missense variant	-	NC_000002.12:g.222220239G>C	ExAC,gnomAD
rs751534630	p.Ser358Arg	missense variant	-	NC_000002.12:g.222220239G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser358Asn	missense variant	-	NC_000002.12:g.222220240C>T	NCI-TCGA
COSM1017008	p.Thr359Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222220238T>G	NCI-TCGA Cosmic
rs1390282619	p.Arg360Gly	missense variant	-	NC_000002.12:g.222220235T>C	gnomAD
rs1156289211	p.Arg360Lys	missense variant	-	NC_000002.12:g.222220234C>T	gnomAD
rs763833464	p.His361Arg	missense variant	-	NC_000002.12:g.222220231T>C	ExAC,gnomAD
COSM1017006	p.Phe363Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222220226A>T	NCI-TCGA Cosmic
COSM72079	p.Ser364Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222220223A>C	NCI-TCGA Cosmic
COSM4859575	p.Ser365Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222220220T>A	NCI-TCGA Cosmic
rs762763009	p.Tyr366Asn	missense variant	-	NC_000002.12:g.222220217A>T	ExAC,gnomAD
rs368438257	p.Thr367Ala	missense variant	-	NC_000002.12:g.222220214T>C	ESP,ExAC,TOPMed,gnomAD
rs1243076475	p.Asp368Asn	missense variant	-	NC_000002.12:g.222220211C>T	gnomAD
rs931413137	p.Ser369Arg	missense variant	-	NC_000002.12:g.222220206G>T	TOPMed,gnomAD
rs776176860	p.Pro372Leu	missense variant	-	NC_000002.12:g.222220198G>A	ExAC,TOPMed,gnomAD
rs200701839	p.Pro373Leu	missense variant	-	NC_000002.12:g.222220195G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1357356043	p.Pro373Ala	missense variant	-	NC_000002.12:g.222220196G>C	TOPMed,gnomAD
RCV000288552	p.Pro373Leu	missense variant	Craniofacial deafness hand syndrome (CDHS)	NC_000002.12:g.222220195G>A	ClinVar
RCV000382870	p.Pro373Leu	missense variant	Waardenburg syndrome	NC_000002.12:g.222220195G>A	ClinVar
rs45607236	p.Ser374Leu	missense variant	-	NC_000002.12:g.222220192G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ser374TrpPheSerTerUnk	frameshift	-	NC_000002.12:g.222220192G>-	NCI-TCGA
rs1436278427	p.Gly375Val	missense variant	-	NC_000002.12:g.222220189C>A	TOPMed
rs1435787173	p.Pro376Ser	missense variant	-	NC_000002.12:g.222220187G>A	gnomAD
COSM6090782	p.Pro376His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222220186G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro376HisPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.222220176_222220186GGGGTTGGAGG>-	NCI-TCGA
NCI-TCGA novel	p.Pro376ValPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.222220187_222220188insCCAC	NCI-TCGA
rs547446014	p.Pro379Ser	missense variant	-	NC_000002.12:g.222220178G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs755170133	p.Met380Val	missense variant	-	NC_000002.12:g.222220175T>C	ExAC,gnomAD
rs749503361	p.Met380Thr	missense variant	-	NC_000002.12:g.222220174A>G	ExAC,TOPMed,gnomAD
rs780344754	p.Asn381Lys	missense variant	-	NC_000002.12:g.222220170G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn381Lys	missense variant	-	NC_000002.12:g.222220170G>C	NCI-TCGA
rs756229758	p.Pro382His	missense variant	-	NC_000002.12:g.222220168G>T	ExAC,TOPMed,gnomAD
rs751571864	p.Thr383Ala	missense variant	-	NC_000002.12:g.222220166T>C	ExAC,gnomAD
rs1385065793	p.Thr383Ser	missense variant	-	NC_000002.12:g.222220165G>C	TOPMed,gnomAD
rs139806736	p.Ile384Thr	missense variant	-	NC_000002.12:g.222220162A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1209002484	p.Asn386Asp	missense variant	-	NC_000002.12:g.222220157T>C	TOPMed
rs987480491	p.Gly387Asp	missense variant	-	NC_000002.12:g.222220153C>T	TOPMed
rs758136826	p.Ser389Leu	missense variant	-	NC_000002.12:g.222220147G>A	ExAC,TOPMed,gnomAD
VAR_013641	p.Gln391His	Missense	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
rs1483648474	p.Val392Ile	missense variant	-	NC_000002.12:g.222202190C>T	TOPMed
rs906415673	p.Val392Ala	missense variant	-	NC_000002.12:g.222202189A>G	TOPMed,gnomAD
rs1418077577	p.Met393Thr	missense variant	-	NC_000002.12:g.222202186A>G	TOPMed
rs1349084587	p.Gly394Glu	missense variant	-	NC_000002.12:g.222202183C>T	gnomAD
rs372297667	p.Leu395Phe	missense variant	-	NC_000002.12:g.222202181G>A	ESP,TOPMed,gnomAD
rs1415590074	p.Leu396Pro	missense variant	-	NC_000002.12:g.222202177A>G	gnomAD
NCI-TCGA novel	p.Thr397Ter	stop gained	-	NC_000002.12:g.222202175_222202176insCAGGAGTCCCATTACCTAAAAAGCTGCGTGTGTTTCCTTA	NCI-TCGA
rs1553568937	p.His399Asp	missense variant	-	NC_000002.12:g.222202169G>C	-
RCV000626397	p.His399Asp	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222202169G>C	ClinVar
rs752573217	p.Gly400Ser	missense variant	-	NC_000002.12:g.222202166C>T	ExAC,TOPMed,gnomAD
rs752573217	p.Gly400Cys	missense variant	-	NC_000002.12:g.222202166C>A	ExAC,TOPMed,gnomAD
rs1469306010	p.Gly401Val	missense variant	-	NC_000002.12:g.222202162C>A	gnomAD
rs374318137	p.Val402Ile	missense variant	-	NC_000002.12:g.222202160C>T	ESP,ExAC,TOPMed,gnomAD
RCV000376940	p.Val402Ile	missense variant	Craniofacial deafness hand syndrome (CDHS)	NC_000002.12:g.222202160C>T	ClinVar
rs1184692229	p.Val402Ala	missense variant	-	NC_000002.12:g.222202159A>G	gnomAD
rs374318137	p.Val402Leu	missense variant	-	NC_000002.12:g.222202160C>A	ESP,ExAC,TOPMed,gnomAD
RCV000322316	p.Val402Ile	missense variant	Waardenburg syndrome	NC_000002.12:g.222202160C>T	ClinVar
rs1231011619	p.Pro403Leu	missense variant	-	NC_000002.12:g.222202156G>A	TOPMed,gnomAD
rs1471725623	p.Pro403Thr	missense variant	-	NC_000002.12:g.222202157G>T	TOPMed,gnomAD
rs1471725623	p.Pro403Ala	missense variant	-	NC_000002.12:g.222202157G>C	TOPMed,gnomAD
rs1471725623	p.Pro403Ser	missense variant	-	NC_000002.12:g.222202157G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Pro406Thr	missense variant	-	NC_000002.12:g.222202148G>T	NCI-TCGA
rs754746623	p.Gln407His	missense variant	-	NC_000002.12:g.222202143C>G	ExAC,gnomAD
rs1287043631	p.Thr408Ala	missense variant	-	NC_000002.12:g.222202142T>C	TOPMed
RCV000262533	p.Tyr410Phe	missense variant	Craniofacial deafness hand syndrome (CDHS)	NC_000002.12:g.222202135T>A	ClinVar
rs886055675	p.Tyr410Phe	missense variant	-	NC_000002.12:g.222202135T>A	TOPMed,gnomAD
RCV000357449	p.Tyr410Phe	missense variant	Waardenburg syndrome	NC_000002.12:g.222202135T>A	ClinVar
rs1042051	p.Ala411Val	missense variant	-	NC_000002.12:g.222202132G>A	ExAC,TOPMed,gnomAD
rs549206921	p.Ala411Thr	missense variant	-	NC_000002.12:g.222202133C>T	ExAC,TOPMed,gnomAD
rs1042051	p.Ala411Glu	missense variant	-	NC_000002.12:g.222202132G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala411ArgPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.222202133_222202134insG	NCI-TCGA
rs1348067917	p.Leu412Pro	missense variant	-	NC_000002.12:g.222202129A>G	gnomAD
rs1042053	p.Leu412Phe	missense variant	-	NC_000002.12:g.222202130G>A	ExAC,gnomAD
rs1449149146	p.Leu415Pro	missense variant	-	NC_000002.12:g.222202120A>G	gnomAD
NCI-TCGA novel	p.Leu415Val	missense variant	-	NC_000002.12:g.222202121G>C	NCI-TCGA
rs930688047	p.Thr416Ala	missense variant	-	NC_000002.12:g.222202118T>C	TOPMed
NCI-TCGA novel	p.Thr416Ile	missense variant	-	NC_000002.12:g.222202117G>A	NCI-TCGA
rs528350431	p.Gly417Arg	missense variant	-	NC_000002.12:g.222202115C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly417Ala	missense variant	-	NC_000002.12:g.222202114C>G	NCI-TCGA
NCI-TCGA novel	p.Gly417Glu	missense variant	-	NC_000002.12:g.222202114C>T	NCI-TCGA
rs1452539825	p.Gly418Ser	missense variant	-	NC_000002.12:g.222202112C>T	gnomAD
rs1335199183	p.Glu420Gly	missense variant	-	NC_000002.12:g.222202105T>C	gnomAD
rs1268562297	p.Pro421His	missense variant	-	NC_000002.12:g.222202102G>T	TOPMed
rs1455880718	p.Thr422Ser	missense variant	-	NC_000002.12:g.222202099G>C	gnomAD
rs1455880718	p.Thr422Ile	missense variant	-	NC_000002.12:g.222202099G>A	gnomAD
rs770087251	p.Thr424Met	missense variant	-	NC_000002.12:g.222202093G>A	ExAC,TOPMed,gnomAD
rs369886550	p.Ser426Ter	stop gained	-	NC_000002.12:g.222202087G>T	ESP,ExAC,TOPMed,gnomAD
rs369886550	p.Ser426Trp	missense variant	-	NC_000002.12:g.222202087G>C	ESP,ExAC,TOPMed,gnomAD
rs369886550	p.Ser426Leu	missense variant	-	NC_000002.12:g.222202087G>A	ESP,ExAC,TOPMed,gnomAD
RCV000660223	p.Ser426Ter	nonsense	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222202087G>T	ClinVar
rs1415034438	p.Ala427Val	missense variant	-	NC_000002.12:g.222202084G>A	gnomAD
rs1399603432	p.Ser430Cys	missense variant	-	NC_000002.12:g.222202076T>A	TOPMed
rs1156242341	p.Gln431Arg	missense variant	-	NC_000002.12:g.222202072T>C	TOPMed
rs770885464	p.Gln431Glu	missense variant	-	NC_000002.12:g.222202073G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln431Lys	missense variant	-	NC_000002.12:g.222202073G>T	NCI-TCGA
rs1016652010	p.Arg432Lys	missense variant	-	NC_000002.12:g.222202069C>T	-
rs944943242	p.Met436Val	missense variant	-	NC_000002.12:g.222202058T>C	TOPMed
rs754795764	p.Ser438Thr	missense variant	-	NC_000002.12:g.222202051C>G	ExAC
rs749014584	p.Asp440Asn	missense variant	-	NC_000002.12:g.222202046C>T	ExAC,TOPMed,gnomAD
rs1444946568	p.Leu442Met	missense variant	-	NC_000002.12:g.222202040G>T	gnomAD
rs779693694	p.Leu442Gln	missense variant	-	NC_000002.12:g.222202039A>T	ExAC,gnomAD
COSM3695302	p.Cys449Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222202018C>T	NCI-TCGA Cosmic
rs767090833	p.Pro450Leu	missense variant	-	NC_000002.12:g.222202015G>A	ExAC,gnomAD
rs756696533	p.Pro451His	missense variant	-	NC_000002.12:g.222202012G>T	ExAC,TOPMed,gnomAD
rs752127930	p.Thr452Ala	missense variant	-	NC_000002.12:g.222202010T>C	ExAC,gnomAD
rs1322674735	p.Tyr453His	missense variant	-	NC_000002.12:g.222202007A>G	gnomAD
COSM1017001	p.Ser454Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222202003C>A	NCI-TCGA Cosmic
rs889542927	p.Thr456Ile	missense variant	-	NC_000002.12:g.222201997G>A	TOPMed
rs763426571	p.Tyr458His	missense variant	-	NC_000002.12:g.222201992A>G	ExAC,gnomAD
RCV000660224	p.Ser459Ter	frameshift	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222201989_222201992dup	ClinVar
rs776059693	p.Ser459Arg	missense variant	-	NC_000002.12:g.222201989T>G	ExAC,TOPMed,gnomAD
rs1407284128	p.Met460Val	missense variant	-	NC_000002.12:g.222201986T>C	gnomAD
rs765696723	p.Met460Thr	missense variant	-	NC_000002.12:g.222201985A>G	ExAC,TOPMed,gnomAD
rs765696723	p.Met460Arg	missense variant	-	NC_000002.12:g.222201985A>C	ExAC,TOPMed,gnomAD
rs776696114	p.Asp461Glu	missense variant	-	NC_000002.12:g.222201981G>T	ExAC,gnomAD
rs1443972658	p.Pro462Ala	missense variant	-	NC_000002.12:g.222201980G>C	gnomAD
NCI-TCGA novel	p.Thr464LysPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.222201973G>-	NCI-TCGA
NCI-TCGA novel	p.Gly465Ser	missense variant	-	NC_000002.12:g.222201971C>T	NCI-TCGA
rs747022299	p.Gln470Leu	missense variant	-	NC_000002.12:g.222201955T>A	ExAC,gnomAD
rs747022299	p.Gln470Pro	missense variant	-	NC_000002.12:g.222201955T>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln470His	missense variant	-	NC_000002.12:g.222201954C>G	NCI-TCGA
rs374089919	p.Trp477Ter	stop gained	-	NC_000002.12:g.222201933C>T	ESP,TOPMed,gnomAD
rs774274104	p.Trp477Gly	missense variant	-	NC_000002.12:g.222201935A>C	ExAC,gnomAD
NCI-TCGA novel	p.Trp477Leu	missense variant	-	NC_000002.12:g.222201934C>A	NCI-TCGA
rs749209813	p.Ter480Tyr	stop lost	-	NC_000002.12:g.222201924C>A	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0003076	Aniridia	disease	BEFREE
C0004144	Atelectasis	phenotype	HPO
C0004352	Autistic Disorder	group	BEFREE
C0005744	Blepharophimosis	disease	HPO
C0011052	Prelingual Deafness	disease	CTD_human
C0011053	Deafness	phenotype	CTD_human;HPO
C0011999	Diastematomyelia	disease	CTD_human
C0012546	Diphtheria	disease	BEFREE
C0013069	Double Outlet Right Ventricle	disease	BEFREE
C0016412	Folic Acid Deficiency	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0018566	Congenital Hand Deformities	group	CTD_human
C0018772	Hearing Loss, Partial	phenotype	HPO
C0018784	Sensorineural Hearing Loss (disorder)	disease	HPO
C0019284	Diaphragmatic Hernia	phenotype	RGD
C0019569	Hirschsprung Disease	disease	BEFREE;HPO
C0020534	Orbital separation excessive	phenotype	HPO
C0023418	leukemia	disease	BEFREE
C0023892	Biliary cirrhosis	disease	GWASDB
C0024299	Lymphoma	group	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025149	Medulloblastoma	disease	BEFREE
C0025160	Megacolon	phenotype	HPO
C0025202	melanoma	disease	BEFREE;LHGDN
C0025362	Mental Retardation	disease	BEFREE;HPO
C0026034	Microstomia	disease	HPO
C0026847	Spinal Muscular Atrophy	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027651	Neoplasms	group	BEFREE
C0027794	Neural Tube Defects	group	BEFREE;CTD_human;LHGDN
C0027806	Neurenteric Cyst	disease	CTD_human
C0027819	Neuroblastoma	group	BEFREE
C0027960	Nevus	disease	BEFREE
C0027962	Melanocytic nevus	disease	BEFREE
C0029434	Osteogenesis Imperfecta	disease	GENOMICS_ENGLAND
C0029463	Osteosarcoma	disease	BEFREE
C0035412	Rhabdomyosarcoma	disease	BEFREE;LHGDN
C0037772	Spastic Paraplegia	disease	HPO
C0038219	Status Dysraphicus	disease	CTD_human
C0041207	Truncus Arteriosus, Persistent	disease	BEFREE
C0043207	Wolfram Syndrome	disease	BEFREE
C0079661	Klein's Syndrome	disease	BEFREE;CTD_human;ORPHANET;UNIPROT
C0080024	Piebaldism	disease	BEFREE;HPO
C0080178	Spina Bifida	disease	BEFREE;CTD_human
C0080218	Tethered Cord Syndrome	disease	CTD_human
C0085758	Aganglionosis, Colonic	disease	BEFREE
C0086395	Hearing Loss, Extreme	phenotype	CTD_human
C0149925	Small cell carcinoma of lung	disease	BEFREE
C0151491	Congenital musculoskeletal anomalies	group	BEFREE
C0151891	Retinal depigmentation	phenotype	HPO
C0152234	Iniencephaly	disease	CTD_human
C0152426	Craniorachischisis	disease	CTD_human
C0152438	Sprengel deformity	disease	HPO
C0153676	Secondary malignant neoplasm of lung	disease	BEFREE
C0158646	Cleft palate with cleft lip	disease	BEFREE;HPO
C0162298	Joint stiffness	phenotype	HPO
C0205944	Sarcoma, Epithelioid	disease	CTD_human
C0205945	Sarcoma, Spindle Cell	disease	CTD_human
C0206093	Neuroectodermal Tumors	disease	BEFREE
C0206655	Alveolar rhabdomyosarcoma	disease	BEFREE;CTD_human;HPO;LHGDN;MGD;ORPHANET
C0206656	Embryonal Rhabdomyosarcoma	disease	BEFREE;LHGDN
C0206769	Nevi and Melanomas	group	BEFREE
C0220611	Childhood Rhabdomyosarcoma	disease	BEFREE
C0220645	Childhood Soft Tissue Sarcoma	disease	BEFREE
C0220763	Vagina absent	phenotype	HPO
C0220810	Congenital defects	group	BEFREE
C0221357	Brachydactyly	disease	HPO
C0231678	Ulnar deviation of the wrist	phenotype	HPO
C0231679	Ulnar deviation of the fingers	phenotype	HPO
C0238288	Muscular Dystrophy, Facioscapulohumeral	disease	BEFREE
C0239337	Deformity of limb	group	BEFREE
C0239804	White hair	phenotype	HPO
C0240310	Hypoplasia of the maxilla	disease	HPO
C0240953	Winged scapula	phenotype	HPO
C0241521	Ulnar deviation of hand	phenotype	HPO
C0263498	Premature canities	phenotype	HPO
C0265541	Cranioschisis	disease	CTD_human
C0265610	Congenital clinodactyly	disease	HPO
C0265681	Supernumerary vertebra	disease	HPO
C0266453	Exencephaly	disease	CTD_human
C0266508	Rachischisis	disease	CTD_human
C0266617	Congenital anomaly of face	group	BEFREE
C0278704	Malignant Childhood Neoplasm	group	BEFREE
C0278883	Metastatic melanoma	disease	BEFREE
C0279550	Adult Rhabdomyosarcoma	disease	BEFREE
C0279613	Childhood Alveolar Rhabdomyosarcoma	disease	MGD
C0280100	Solid Neoplasm	phenotype	BEFREE
C0282606	Myomatous neoplasm	disease	BEFREE
C0302501	Mandibular hyperplasia	phenotype	HPO
C0334616	Malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation	disease	BEFREE
C0338503	Septo-Optic Dysplasia	disease	BEFREE
C0339789	Congenital deafness	disease	BEFREE;HPO
C0342680	Klein-Waardenberg's syndrome	disease	CLINVAR
C0344312	White forelock	phenotype	HPO
C0344479	Spinal Cord Myelodysplasia	disease	CTD_human
C0344511	Atresia of nasolacrimal duct	disease	HPO
C0344559	Irido-corneo-trabecular dysgenesis (disorder)	disease	BEFREE
C0345397	Accessory rib	disease	HPO
C0346957	Disseminated Malignant Neoplasm	phenotype	BEFREE
C0376634	Craniofacial Abnormalities	group	CTD_human
C0399526	Class III malocclusion	disease	HPO
C0406775	Symmetrical dyschromatosis of extremities	disease	BEFREE
C0409348	Flexion contracture of proximal interphalangeal joint	phenotype	HPO
C0423110	Downward slant of palpebral fissure	phenotype	HPO
C0423113	Telecanthus	phenotype	HPO
C0423318	Heterochromia iridis	phenotype	HPO
C0423903	Low intelligence	phenotype	HPO
C0424688	Small head	phenotype	HPO
C0426414	Small nose	phenotype	HPO
C0426422	Narrow nose	phenotype	HPO
C0431447	Synophrys	disease	HPO
C0431863	Carpal synostosis	disease	HPO
C0497552	Congenital neurologic anomalies	group	CTD_human
C0553580	Ewings sarcoma	disease	BEFREE
C0578626	blue iris (physical finding)	phenotype	HPO
C0581883	Complete Hearing Loss	phenotype	CTD_human
C0582591	Processing speed	phenotype	GWASCAT
C0596263	Carcinogenesis	phenotype	BEFREE
C0598766	Leukemogenesis	disease	BEFREE
C0599973	Waardenburg Anophthalmia Syndrome	disease	ORPHANET
C0684743	Malignant neoplasm of muscle	disease	BEFREE
C0685684	Congenital hypoplasia of nose	disease	HPO
C0699791	Stomach Carcinoma	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0702169	Acrania	disease	CTD_human
C0751068	Deafness, Acquired	disease	CTD_human
C0917816	Mental deficiency	disease	HPO
C1142533	Smooth philtrum	phenotype	HPO
C1261473	Sarcoma	group	BEFREE;CTD_human
C1321884	Atresia of vagina	disease	HPO
C1384666	hearing impairment	phenotype	HPO
C1402291	Pigmented lesions	disease	BEFREE
C1456781	Benign melanocytic nevus	disease	BEFREE
C1567741	Alport Syndrome	disease	BEFREE
C1710096	Sinonasal undifferentiated carcinoma	disease	CTD_human
C1834055	Underdeveloped nasal alae	phenotype	HPO
C1836193	Synostosis of carpal bones	phenotype	HPO
C1836542	Depressed nasal bridge	phenotype	HPO
C1836735	hypopigmented skin patch	phenotype	HPO
C1836736	White eyelashes	phenotype	HPO
C1836737	White eyebrow	phenotype	HPO
C1837463	Narrow face	phenotype	HPO
C1839764	Broad flat nasal bridge	phenotype	HPO
C1839767	Tented upper lip vermilion	phenotype	HPO
C1841990	Aplasia of the vagina	phenotype	HPO
C1842876	Depressed nasal ridge	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1845026	Neural tube defects X-linked	disease	MGD
C1845027	Spina Bifida, X-Linked	disease	MGD
C1847800	Waardenburg Syndrome Type 1	disease	BEFREE;CLINVAR;CTD_human;MGD;ORPHANET;UNIPROT
C1848519	WAARDENBURG SYNDROME, TYPE 4A	disease	BEFREE
C1849121	Thin face	phenotype	HPO
C1849367	Nasal bridge wide	phenotype	HPO
C1850072	Tented upper lip	phenotype	HPO
C1852510	Craniofacial deafness hand syndrome	disease	BEFREE;CLINVAR;CTD_human;ORPHANET;UNIPROT
C1853241	Flat face	phenotype	HPO
C1853383	Tented mouth	phenotype	HPO
C1853487	Thick eyebrow	phenotype	HPO
C1854113	Prominent nasal bridge	phenotype	HPO
C1854114	Short nose	phenotype	HPO
C1858085	Malar flattening	phenotype	HPO
C1860339	WAARDENBURG SYNDROME, TYPE IIA	disease	BEFREE
C1860344	Hypoplastic iris stroma	phenotype	HPO
C1865866	Congenital sensorineural hearing loss	disease	BEFREE;HPO
C1866558	Neural tube defect, folate-sensitive	disease	MGD
C1866559	Spina Bifida, Folate-Sensitive	disease	MGD
C1997217	Low grade glioma	disease	BEFREE
C2227134	mandibular excess (physical finding)	phenotype	HPO
C2700265	Waardenburg Syndrome Type 2	disease	BEFREE
C2986658	Diffuse Intrinsic Pontine Glioma	disease	BEFREE
C3179349	Gastrointestinal Stromal Sarcoma	disease	BEFREE
C3266898	Waardenburg Syndrome	disease	BEFREE;CLINVAR;CTD_human;LHGDN
C3550546	Depressed nasal root/bridge	phenotype	HPO
C3665473	Bilateral Deafness	phenotype	CTD_human
C3714756	Intellectual Disability	group	BEFREE;GENOMICS_ENGLAND;HPO
C4020876	Dull intelligence	phenotype	HPO
C4020891	Pinched nasal bridge	phenotype	HPO
C4021254	Cutaneous finger syndactyly	disease	HPO
C4021801	Lacrimation abnormality	phenotype	HPO
C4021813	Oral cleft	disease	HPO
C4024159	Aplasia/Hypoplasia involving the nose	phenotype	HPO
C4025777	Autosomal dominant contiguous gene syndrome	disease	HPO
C4025846	Abnormality of vision	phenotype	HPO
C4072849	Scapular weakness	phenotype	HPO
C4082243	Maxillary retrognathia	phenotype	HPO
C4082305	Deaf Mutism	disease	CTD_human
C4230640	Convex nasal bridge	phenotype	HPO
C4280304	Curvature of digit	phenotype	HPO
C4280392	Hypotrophic nose	phenotype	HPO
C4280495	Concave bridge of nose	phenotype	HPO
C4280578	Grey eyelashes	phenotype	HPO
C4280579	Grey eyebrow	phenotype	HPO
C4280580	Blonde eyebrow	phenotype	HPO
C4280630	Pinched bridge of nose	phenotype	HPO
C4280640	Retrusion of upper jaw bones	phenotype	HPO
C4280641	Hypotrophic maxilla	phenotype	HPO
C4280642	Deficiency of upper jaw bones	phenotype	HPO
C4280643	Decreased projection of maxilla	phenotype	HPO
C4280644	Increased size of the mandible	phenotype	HPO
C4280645	Hypertrophy of lower jaw	phenotype	HPO
C4280651	Hypotrophic malar bone	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0003700	DNA-binding transcription factor activity	TAS
GO:0005515	protein binding	IPI
GO:0043565	sequence-specific DNA binding	IDA
GO:0071837	HMG box domain binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006366	transcription by RNA polymerase II	TAS
GO:0006915	apoptotic process	TAS
GO:0007399	nervous system development	IEA
GO:0007517	muscle organ development	IEA
GO:0007605	sensory perception of sound	TAS
GO:0009887	animal organ morphogenesis	TAS
GO:0045893	positive regulation of transcription, DNA-templated	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005654	nucleoplasm	IDA
GO:0005654	nucleoplasm	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-3214847	HATs acetylate histones	TAS
R-HSA-3247509	Chromatin modifying enzymes	TAS
R-HSA-4839726	Chromatin organization	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with belinostat 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 PAX3 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PAX3 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat 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 PAX3 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PAX3 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PAX3 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with 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 PAX3 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PAX3 mRNA	27188386
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of PAX3 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of PAX3 exon	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of PAX3 intron	30157460
D024502	alpha-Tocopherol	alpha-Tocopherol inhibits the reaction [Glucose results in decreased expression of PAX3 mRNA]	12739027
D024502	alpha-Tocopherol	alpha-Tocopherol results in increased expression of PAX3 mRNA	12739027
D000638	Amiodarone	Amiodarone results in increased expression of PAX3 mRNA	19774075
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of PAX3 mRNA	16483693
C032456	antimycin	antimycin results in decreased expression of PAX3 mRNA	12739027
C015001	arsenite	arsenite results in increased methylation of PAX3 promoter	23974009
C487081	belinostat	belinostat results in increased expression of PAX3 mRNA	26272509
C487081	belinostat	[NOG protein co-treated with belinostat 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 PAX3 mRNA	27188386
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in decreased expression of PAX3 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the methylation of PAX3 promoter	27334623
C006780	bisphenol A	bisphenol A affects the expression of PAX3 mRNA	25181051
C000611646	bisphenol F	bisphenol F results in decreased expression of PAX3 mRNA	30951980
D001973	Bromodeoxyuridine	PAX3 gene polymorphism results in increased susceptibility to Bromodeoxyuridine	3902948
D002104	Cadmium	Cadmium results in increased expression of PAX3 mRNA	25149082
C037123	cadmium sulfate	PAX3 gene polymorphism results in increased susceptibility to cadmium sulfate	3902948
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PAX3 gene	20938992
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of PAX3 mRNA	19549813
D003513	Cycloheximide	Cycloheximide inhibits the reaction [Tetrachlorodibenzodioxin results in decreased expression of PAX3 mRNA]	11007951
C036042	dicyclohexyl phthalate	dicyclohexyl phthalate affects the expression of PAX3 mRNA	26924002
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of PAX3 mRNA	31163220
C516138	dorsomorphin	[NOG protein co-treated with belinostat 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 PAX3 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PAX3 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat 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 PAX3 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PAX3 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PAX3 mRNA	27188386
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 PAX3 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PAX3 mRNA	27188386
D004726	Endosulfan	Endosulfan results in decreased expression of PAX3 mRNA	29391264
C118739	entinostat	entinostat results in increased expression of PAX3 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PAX3 mRNA	27188386
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of PAX3 mRNA	23129252
D005038	Ethylnitrosourea	Ethylnitrosourea results in increased mutagenesis of PAX3 gene	16724327
D005473	Fluoxetine	Fluoxetine affects the expression of PAX3 mRNA	29893963
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PAX3 gene	20938992
C039281	furan	furan results in decreased expression of PAX3 mRNA	25539665
D005947	Glucose	Glucose results in decreased expression of PAX3 protein	26053125
D005947	Glucose	Resveratrol inhibits the reaction [Glucose results in decreased expression of PAX3 protein]	26053125
D005947	Glucose	alpha-Tocopherol inhibits the reaction [Glucose results in decreased expression of PAX3 mRNA]	12739027
D005947	Glucose	Glucose results in decreased expression of PAX3 mRNA	12739027
D005947	Glucose	S-ethyl glutathione inhibits the reaction [Glucose results in decreased expression of PAX3 mRNA]	12739027
D005947	Glucose	Glucose results in decreased expression of PAX3 mRNA	21818840
C000588695	IBS008738	IBS008738 inhibits the reaction [PAX3 protein binds to MYF5 promoter]	24550007
D018021	Lithium Chloride	Lithium Chloride results in increased expression of PAX3 protein	19101580
D008627	Mercuric Chloride	Mercuric Chloride affects the expression of PAX3 mRNA	20353558
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PAX3 gene	20938992
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of PAX3 mRNA	28001369
C004925	methylmercuric chloride	methylmercuric chloride affects the expression of PAX3 mRNA	21613230
C015358	methylparaben	methylparaben results in increased expression of PAX3 mRNA	28927898
C406082	monomethylarsonous acid	monomethylarsonous acid results in decreased expression of PAX3 mRNA	26024302
C406082	monomethylarsonous acid	monomethylarsonous acid results in decreased expression of PAX3 protein	26024302
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of PAX3 mRNA	26924002
D009538	Nicotine	Nicotine results in decreased expression of PAX3 mRNA	20339300
C007350	nitrofen	nitrofen results in decreased expression of PAX3 mRNA	15616818; 16481245;
C007350	nitrofen	Vitamin A inhibits the reaction [nitrofen results in decreased expression of PAX3 mRNA]	16481245
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat 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 PAX3 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of PAX3 mRNA	26272509
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PAX3 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of PAX3 mRNA	26272509
D010672	Phenytoin	Phenytoin results in decreased expression of PAX3 mRNA	9118846
D010936	Plant Extracts	Plant Extracts results in decreased expression of PAX3 mRNA	23557933
C005556	propionaldehyde	propionaldehyde results in decreased expression of PAX3 mRNA	26079696
C043680	ptaquiloside	ptaquiloside results in decreased expression of PAX3 mRNA	23274088
D000077185	Resveratrol	Resveratrol inhibits the reaction [Glucose results in decreased expression of PAX3 protein]	26053125
C042431	S-ethyl glutathione	S-ethyl glutathione inhibits the reaction [Glucose results in decreased expression of PAX3 mRNA]	12739027
C017947	sodium arsenite	sodium arsenite affects the methylation of PAX3 gene	28589171
C017947	sodium arsenite	sodium arsenite results in decreased expression of PAX3 mRNA	22641621; 26024302;
C017947	sodium arsenite	sodium arsenite results in decreased expression of PAX3 protein	22641621
D013267	Stilbenes	Stilbenes analog results in decreased expression of PAX3 mRNA	29042215
D000077210	Sunitinib	Sunitinib results in increased expression of PAX3 mRNA	31533062
D013749	Tetrachlorodibenzodioxin	Cycloheximide inhibits the reaction [Tetrachlorodibenzodioxin results in decreased expression of PAX3 mRNA]	11007951
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of PAX3 mRNA	11007951
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PAX3 mRNA	24058054
D014212	Tretinoin	Tretinoin inhibits the reaction [PAX3 protein binds to DPYSL2 promoter]	17229153
D014212	Tretinoin	Tretinoin results in decreased expression of PAX3 mRNA	17229153; 21934132;
D014212	Tretinoin	PAX3 gene mutant form results in increased susceptibility to Tretinoin	6385329
D014212	Tretinoin	PAX3 gene polymorphism results in increased susceptibility to Tretinoin	3902948
D014212	Tretinoin	Tretinoin results in increased expression of PAX3 mRNA	17038669
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PAX3 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of PAX3 mRNA	24935251; 26272509;
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 PAX3 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in decreased expression of PAX3 mRNA	28001369
D014635	Valproic Acid	Valproic Acid results in increased expression of PAX3 mRNA	24383497; 24935251; 26272509;
D014635	Valproic Acid	Valproic Acid results in increased expression of PAX3 protein	19101580
D014635	Valproic Acid	Valproic Acid affects the expression of PAX3 mRNA	31445079
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of PAX3 gene	25560391
D014801	Vitamin A	Vitamin A inhibits the reaction [nitrofen results in decreased expression of PAX3 mRNA]	16481245
D000077337	Vorinostat	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PAX3 mRNA	27188386
D000077337	Vorinostat	Vorinostat results in decreased expression of PAX3 mRNA	27188386
D000077337	Vorinostat	Vorinostat results in increased expression of PAX3 mRNA	26272509

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0160	Chromosomal rearrangement
KW-0209	Deafness
KW-0217	Developmental protein
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0371	Homeobox
KW-0517	Myogenesis
KW-0524	Neurogenesis
KW-0539	Nucleus
KW-0563	Paired box
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0656	Proto-oncogene
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0897	Waardenburg syndrome

Interpro

InterPro ID	InterPro Term
IPR009057	Homeobox-like_sf
IPR017970	Homeobox_CS
IPR001356	Homeobox_dom
IPR043182	PAIRED_DNA_bd_dom
IPR001523	Paired_dom
IPR022106	Pax7_C
IPR036388	WH-like_DNA-bd_sf

PROSITE

PROSITE ID	PROSITE Term
PS00027	HOMEOBOX_1
PS50071	HOMEOBOX_2
PS00034	PAIRED_1
PS51057	PAIRED_2

Pfam

Pfam ID	Pfam Term
PF00046	Homeodomain
PF00292	PAX
PF12360	Pax7

Gene: PAX3

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

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction