PAX3

paired box 3

Summary

This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008]

Known Variants272 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3731858	2:223,065,870	C/A	—	likely benign
rs768339357	2:223,065,888	G/T	—	likely benign
rs780660984	2:223,065,952	G/A	—	pathogenic
rs1574618272	2:223,066,124	C/G	—	uncertain significance
rs757964568	2:223,066,133	G/A	—	likely benign
rs200777940	2:223,066,178	G/A	—	likely benign
rs13014735	2:223,066,237	G/A	—	benign
rs45624434	2:223,066,443	G/A	—	benign
rs573451372	2:223,066,462	G/A	—	uncertain significance
rs78035924	2:223,066,477	C/T	—	benign
rs1395471577	2:223,066,498	C/A	—	uncertain significance
rs886055674	2:223,066,538	A/C	—	uncertain significance
rs142988099	2:223,066,559	C/T	—	benign
rs544726519	2:223,066,560	G/A	—	uncertain significance
rs186207055	2:223,066,608	G/A	—	benign
rs768521579	2:223,066,649	A/T	—	likely benign
rs2106033653	2:223,066,684	G/T	—	uncertain significance
rs1407284128	2:223,066,705	T/C	—	uncertain significance
rs776059693	2:223,066,708	T/G	—	conflicting classifications of pathogenicity
rs889542927	2:223,066,716	G/A	—	uncertain significance
rs756696533	2:223,066,731	G/T	—	uncertain significance
rs1691312085	2:223,066,735	G/C	—	uncertain significance
rs1574619364	2:223,066,745	C/T	—	likely benign
rs779693694	2:223,066,758	A/C	—	uncertain significance
rs770885464	2:223,066,792	G/A	—	uncertain significance
rs369886550	2:223,066,806	G/T	—	pathogenic
rs1691316648	2:223,066,830	C/A	—	uncertain significance
rs376147620	2:223,066,835	G/A	—	conflicting classifications of pathogenicity
rs1691318066	2:223,066,843	G/A	—	uncertain significance
rs549206921	2:223,066,852	C/T	—	uncertain significance
rs147111779	2:223,066,853	G/C	—	pathogenic
rs886055675	2:223,066,854	T/A	—	uncertain significance
rs2469197157	2:223,066,870	G/A	—	pathogenic
rs1231011619	2:223,066,875	G/A	—	uncertain significance
rs374318137	2:223,066,879	C/T	—	uncertain significance
rs377508524	2:223,066,886	G/A	—	likely benign
rs1553568937	2:223,066,888	G/C	—	likely benign
rs1349084587	2:223,066,902	C/T	—	uncertain significance
rs2469197395	2:223,066,911	T/C	—	likely pathogenic
rs2855268	2:223,066,919	C/T	intron variant	likely benign
rs530580518	2:223,066,927	T/C	—	likely benign
rs45493391	2:223,067,196	C/T	—	likely benign
rs7559271	2:223,068,286	G/A	intron variant	—
rs13017777	2:223,069,625	T/C	intron variant	—
rs2855266	2:223,072,019	T/A	intron variant	—
rs59277927	2:223,074,399	C/A	intron variant	—
rs150637194	2:223,084,819	G/A	—	likely benign
rs13022712	2:223,084,833	C/T	—	benign
rs752483694	2:223,084,850	G/A	—	likely benign
rs758136826	2:223,084,866	G/C	—	pathogenic
rs2469248098	2:223,084,870	G/C	—	uncertain significance
rs987480491	2:223,084,872	C/T	—	uncertain significance
rs139806736	2:223,084,881	A/G	—	uncertain significance
rs756229758	2:223,084,887	G/T	—	uncertain significance
rs547446014	2:223,084,897	G/A	—	uncertain significance
rs1692132493	2:223,084,905	G/T	—	uncertain significance
rs45607236	2:223,084,911	G/A	—	uncertain significance
rs200701839	2:223,084,914	G/A	—	conflicting classifications of pathogenicity
rs770424826	2:223,084,916	A/T	—	conflicting classifications of pathogenicity
rs2469248545	2:223,084,921	C/A	—	uncertain significance
rs931413137	2:223,084,925	G/C	—	uncertain significance
rs35913673	2:223,084,961	G/A	—	likely benign
rs778178524	2:223,084,996	A/G	—	uncertain significance
rs747502205	2:223,085,003	C/T	—	conflicting classifications of pathogenicity
rs1553572740	2:223,085,011	G/A	—	likely pathogenic
rs1692141813	2:223,085,020	T/A	—	uncertain significance
rs151199924	2:223,085,029	G/A	—	conflicting classifications of pathogenicity
rs551614431	2:223,085,034	G/A	—	uncertain significance
rs2469249189	2:223,085,038	G/A	—	likely pathogenic
rs149799356	2:223,085,050	C/T	—	likely benign
rs374429328	2:223,085,051	G/A	—	conflicting classifications of pathogenicity
rs879255434	2:223,085,064	T/C	—	uncertain significance
rs553899131	2:223,085,101	A/G	—	likely benign
rs13353354	2:223,085,647	C/T	—	benign
rs185119406	2:223,085,932	C/T	—	conflicting classifications of pathogenicity
rs558822810	2:223,085,935	C/T	—	uncertain significance
rs2106074168	2:223,085,944	G/A	—	pathogenic
rs2234675	2:223,085,955	T/G	—	conflicting classifications of pathogenicity
rs2469252136	2:223,085,957	G/A	—	likely benign
rs2469252164	2:223,085,963	G/C	—	pathogenic
rs199952493	2:223,085,975	C/T	—	likely benign
rs376864501	2:223,085,999	C/T	—	likely benign
rs45522331	2:223,086,020	C/A	—	likely benign
rs142651003	2:223,086,025	C/T	—	uncertain significance
rs141545923	2:223,086,026	G/A	—	likely benign
rs199651907	2:223,086,028	G/A	—	uncertain significance
rs776672400	2:223,086,036	T/C	—	uncertain significance
rs762975677	2:223,086,045	G/A	—	uncertain significance
rs1064796626	2:223,086,064	C/T	—	uncertain significance
rs2106074565	2:223,086,070	G/A	—	pathogenic
rs1559264524	2:223,086,078	C/T	—	pathogenic
rs1020175890	2:223,086,081	C/T	—	uncertain significance
rs774528745	2:223,086,087	C/T	missense variant	pathogenic
rs1380858784	2:223,086,088	G/A	—	pathogenic
rs2106074603	2:223,086,090	C/G	—	likely pathogenic
rs1228590199	2:223,086,091	G/A	—	pathogenic
rs45501393	2:223,086,092	G/A	—	benign
rs2469252734	2:223,086,102	C/T	—	pathogenic
rs1210072810	2:223,086,106	C/A	—	likely pathogenic
rs1692187097	2:223,086,110	T/C	—	uncertain significance

Showing 100 of 272 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.