PAX4

paired box 4

Summary

This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. [provided by RefSeq, Jul 2008]

Known Variants134 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs759186282	7:127,250,396	A/G	—	uncertain significance
rs712699	7:127,250,597	G/A	—	benign
rs405576	7:127,250,626	C/T	—	likely benign
rs327520	7:127,250,641	G/A	—	benign
rs327519	7:127,250,716	A/G	—	likely benign
rs12669223	7:127,250,831	G/A	—	likely benign
rs712700	7:127,250,907	T/C	—	benign
rs1332351860	7:127,250,922	G/A	—	uncertain significance
rs2535509236	7:127,250,926	G/A	—	likely benign
rs2233585	7:127,250,928	G/A	—	likely benign
rs2535509281	7:127,250,953	G/A	—	likely benign
rs886061967	7:127,251,052	G/A	—	uncertain significance
rs150578361	7:127,251,085	G/T	—	likely benign
rs761445704	7:127,251,134	A/G	—	uncertain significance
rs143084654	7:127,251,150	G/A	—	conflicting classifications of pathogenicity
rs2233584	7:127,251,152	C/T	—	uncertain significance
rs201607054	7:127,251,160	G/A	—	conflicting classifications of pathogenicity
rs2233583	7:127,251,161	G/A	—	conflicting classifications of pathogenicity
rs712701	7:127,251,188	T/G	—	conflicting classifications of pathogenicity
rs778673698	7:127,251,192	A/G	—	uncertain significance
rs142426878	7:127,251,242	G/A	—	uncertain significance
rs2117446307	7:127,251,260	C/T	—	uncertain significance
rs111652274	7:127,251,541	C/T	—	likely benign
rs886061968	7:127,251,598	G/T	—	uncertain significance
rs150850990	7:127,251,608	G/A	—	likely benign
rs1229742195	7:127,251,616	G/A	—	uncertain significance
rs139309837	7:127,251,634	A/G	—	likely benign
rs114416157	7:127,251,702	G/A	—	uncertain significance
rs529976183	7:127,251,726	G/T	—	uncertain significance
rs371715169	7:127,251,731	C/T	splice region variant	pathogenic
rs200911735	7:127,251,740	A/G	—	likely benign
rs749541765	7:127,251,748	G/A	—	likely benign
rs327518	7:127,251,792	G/A	—	benign
rs146298807	7:127,251,826	C/T	—	likely benign
rs2233582	7:127,251,886	A/G	—	likely benign
rs377152445	7:127,251,993	G/A	—	uncertain significance
rs147670794	7:127,252,008	G/A	—	likely benign
rs761341133	7:127,252,009	A/G	—	uncertain significance
rs117823055	7:127,252,096	G/A	—	benign
rs139470303	7:127,252,105	A/G	—	likely benign
rs149820585	7:127,252,895	G/A	—	likely benign
rs806192	7:127,252,903	A/C	—	benign
rs747727099	7:127,253,033	A/G	—	likely benign
rs1794661215	7:127,253,061	G/C	—	likely benign
rs1328872875	7:127,253,085	G/A	—	uncertain significance
rs115621771	7:127,253,098	G/A	—	uncertain significance
rs557297016	7:127,253,111	C/T	—	likely benign
rs375472849	7:127,253,114	C/T	—	uncertain significance
rs369459316	7:127,253,115	G/A	—	uncertain significance
rs11977988	7:127,253,152	G/A	—	likely benign
rs78594665	7:127,253,451	C/T	—	benign
rs528075802	7:127,253,511	G/A	—	uncertain significance
rs141407429	7:127,253,513	G/A	—	likely benign
rs2233580	7:127,253,550	C/T	missense variant	likely benign
rs3824004	7:127,253,551	G/T	—	likely benign
rs145284016	7:127,253,577	C/T	—	uncertain significance
rs114315130	7:127,253,578	G/A	—	conflicting classifications of pathogenicity
rs748006842	7:127,253,591	G/A	—	likely benign
rs376403180	7:127,253,597	C/T	—	likely benign
rs567083748	7:127,253,598	G/A	—	likely benign
rs370988777	7:127,253,610	G/A	—	likely benign
rs771108079	7:127,253,800	A/G	—	likely benign
rs1290905638	7:127,253,827	G/A	—	uncertain significance
rs327517	7:127,253,829	T/C	—	likely benign
rs1554404073	7:127,253,833	C/T	—	uncertain significance
rs776151854	7:127,253,851	C/T	—	uncertain significance
rs587780414	7:127,253,857	C/T	—	uncertain significance
rs121917718	7:127,253,858	G/A	missense variant	uncertain significance
rs942218701	7:127,253,859	G/A	—	likely benign
rs2116137636	7:127,253,861	G/A	—	uncertain significance
rs1370643668	7:127,253,864	C/T	—	uncertain significance
rs143156250	7:127,253,874	G/A	—	likely benign
rs771178255	7:127,253,881	C/T	—	uncertain significance
rs375269956	7:127,253,884	C/T	—	uncertain significance
rs77039439	7:127,253,898	A/G	—	conflicting classifications of pathogenicity
rs534392927	7:127,253,905	T/C	—	uncertain significance
rs61749955	7:127,253,916	G/A	—	likely benign
rs752253116	7:127,253,918	C/T	—	uncertain significance
rs1414819441	7:127,253,921	C/G	—	uncertain significance
rs758317971	7:127,253,923	G/A	—	uncertain significance
rs115941984	7:127,254,181	A/C	—	likely benign
rs594141	7:127,254,457	A/G	—	benign
rs537972	7:127,254,460	C/T	—	benign
rs2233579	7:127,254,501	C/T	—	likely benign
rs2233578	7:127,254,551	G/A	missense variant	risk factor
rs767181337	7:127,254,566	C/G	—	likely benign
rs886061969	7:127,254,569	G/C	—	uncertain significance
rs114202595	7:127,254,587	G/A	missense variant	pathogenic
rs1344240785	7:127,254,593	C/T	—	uncertain significance
rs2233577	7:127,254,784	C/T	—	likely benign
rs115157546	7:127,254,949	C/T	—	likely benign
rs761394041	7:127,254,954	T/A	—	uncertain significance
rs773308230	7:127,254,962	C/A	—	uncertain significance
rs144792551	7:127,254,981	G/A	—	conflicting classifications of pathogenicity
rs1024556039	7:127,255,014	C/T	—	uncertain significance
rs115923648	7:127,255,034	C/T	—	uncertain significance
rs2116142104	7:127,255,044	C/G	—	uncertain significance
rs1260268236	7:127,255,046	G/C	—	uncertain significance
rs1193400606	7:127,255,052	G/T	—	uncertain significance
rs561603997	7:127,255,061	C/T	—	uncertain significance

Showing 100 of 134 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.