IRF6

interferon regulatory factor 6

Summary

This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2011]

Known Variants269 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs760763242	1:209,958,970	C/T	—	uncertain significance
rs1428189240	1:209,959,107	T/G	—	uncertain significance
rs1856161	1:209,959,168	C/T	regulatory region variant	benign
rs188593210	1:209,959,293	C/T	—	benign
rs112896538	1:209,959,351	C/T	—	likely benign
rs866747914	1:209,959,421	G/A	—	uncertain significance
rs752399888	1:209,959,497	G/A	—	uncertain significance
rs1044516	1:209,959,614	G/T	regulatory region variant	benign
rs567043500	1:209,959,643	A/G	—	benign
rs886045876	1:209,959,701	C/T	—	uncertain significance
rs1468618309	1:209,959,759	A/G	—	uncertain significance
rs1050174407	1:209,959,763	T/C	—	uncertain significance
rs2077834086	1:209,959,766	A/G	—	uncertain significance
rs680331	1:209,959,872	G/A	—	benign
rs2077834990	1:209,959,895	C/G	—	uncertain significance
rs886045877	1:209,959,921	C/T	—	uncertain significance
rs201184204	1:209,959,994	T/C	—	benign
rs886045878	1:209,959,998	C/T	—	uncertain significance
rs1050315474	1:209,960,053	A/G	—	uncertain significance
rs575407072	1:209,960,065	C/G	—	uncertain significance
rs1047020008	1:209,960,180	G/A	—	uncertain significance
rs114756064	1:209,960,254	G/A	—	benign
rs895818762	1:209,960,291	G/A	—	uncertain significance
rs531092939	1:209,960,292	G/C	—	uncertain significance
rs2235372	1:209,960,436	G/A	—	benign
rs930043539	1:209,960,489	G/A	—	uncertain significance
rs149425923	1:209,960,500	C/G	—	benign
rs58161850	1:209,960,519	G/C	—	benign
rs926144526	1:209,960,593	A/T	—	uncertain significance
rs886045879	1:209,960,642	A/G	—	uncertain significance
rs144692145	1:209,960,800	C/T	—	benign
rs776408684	1:209,960,833	T/C	—	uncertain significance
rs599021	1:209,960,922	A/C	splice region variant	benign
rs742214	1:209,960,925	T/C	—	benign
rs917524521	1:209,960,961	G/C	—	uncertain significance
rs742215	1:209,961,023	T/A	—	benign
rs4844899	1:209,961,100	G/T	—	benign
rs576516344	1:209,961,174	A/C	—	uncertain significance
rs561885624	1:209,961,190	A/T	—	uncertain significance
rs73091663	1:209,961,207	G/A	—	benign
rs182317104	1:209,961,250	C/T	—	uncertain significance
rs75012801	1:209,961,286	C/A	—	benign
rs763919560	1:209,961,288	C/T	—	uncertain significance
rs17317411	1:209,961,314	T/C	—	benign
rs187379424	1:209,961,354	G/A	—	benign
rs79863693	1:209,961,412	A/G	—	benign
rs146078290	1:209,961,423	T/G	—	benign
rs191645857	1:209,961,486	A/G	—	benign
rs77906982	1:209,961,561	G/A	—	benign
rs1195873569	1:209,961,769	T/C	—	uncertain significance
rs1374009568	1:209,961,771	G/A	—	likely benign
rs886045883	1:209,961,781	G/A	—	uncertain significance
rs763532645	1:209,961,809	G/A	—	uncertain significance
rs762190983	1:209,961,819	C/A	—	uncertain significance
rs1234188725	1:209,961,848	G/A	—	uncertain significance
rs886038202	1:209,961,853	A/G	missense variant	pathogenic
rs1286939391	1:209,961,854	G/A	—	likely benign
rs753818978	1:209,961,856	T/A	—	not provided
rs1064793155	1:209,961,857	G/A	stop gained	pathogenic
rs758153743	1:209,961,877	T/G	—	uncertain significance
rs2102534810	1:209,961,890	C/A	—	not provided
rs758865774	1:209,961,894	G/A	—	likely benign
rs387906968	1:209,961,898	G/A	missense variant	pathogenic
rs2077848377	1:209,961,899	A/C	—	uncertain significance
rs1553247592	1:209,961,901	A/C	—	pathogenic
rs115777201	1:209,961,910	C/T	—	conflicting classifications of pathogenicity
rs1156568671	1:209,961,922	C/T	—	uncertain significance
rs2464663965	1:209,961,924	A/C	—	uncertain significance
rs1558038289	1:209,961,930	G/T	—	likely benign
rs1553247595	1:209,961,935	G/A	—	pathogenic
rs200714160	1:209,961,945	A/G	—	likely benign
rs769068305	1:209,961,959	C/T	missense variant	pathogenic
rs200166664	1:209,961,970	C/T	missense variant	pathogenic
rs28942095	1:209,961,971	G/A	missense variant	pathogenic
rs2464664124	1:209,961,979	A/G	—	uncertain significance
rs121434230	1:209,961,983	G/A	missense variant	pathogenic
rs926346	1:209,962,204	A/T	—	benign
rs2073485	1:209,962,794	G/A	regulatory region variant	benign
rs121434225	1:209,963,014	G/A	stop gained	pathogenic
rs1553247688	1:209,963,016	A/C	—	uncertain significance
rs141653312	1:209,963,018	C/T	—	likely benign
rs542258348	1:209,963,031	C/T	—	uncertain significance
rs61099902	1:209,963,038	A/G	—	benign
rs2077857559	1:209,963,053	G/A	—	pathogenic
rs121434228	1:209,963,054	C/T	stop gained	pathogenic
rs2077857680	1:209,963,070	C/T	—	likely pathogenic
rs2102536039	1:209,963,084	A/T	—	uncertain significance
rs375673997	1:209,963,090	T/A	—	likely benign
rs959068423	1:209,963,095	G/C	—	uncertain significance
rs1317826948	1:209,963,126	G/A	—	uncertain significance
rs2464667462	1:209,963,131	C/A	—	pathogenic
rs190332566	1:209,963,137	A/G	—	likely benign
rs2464667486	1:209,963,140	G/C	—	uncertain significance
rs2235373	1:209,963,803	G/A	regulatory region variant	benign
rs781506407	1:209,963,839	C/T	—	pathogenic
rs200808685	1:209,963,840	C/T	—	uncertain significance
rs116578701	1:209,963,841	G/A	—	likely benign
rs1553247744	1:209,963,845	A/C	—	uncertain significance
rs2464669498	1:209,963,847	G/T	—	uncertain significance
rs1224922793	1:209,963,848	A/G	—	pathogenic

Showing 100 of 269 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.