RFX6

regulatory factor X6

Summary

The nuclear protein encoded by this gene is a member of the regulatory factor X (RFX) family of transcription factors. Studies in mice suggest that this gene is specifically required for the differentiation of islet cells for the production of insulin, but not for the differentiation of pancreatic polypeptide-producing cells. It regulates the transcription factors involved in beta-cell maturation and function, thus, restricting the expression of the beta-cell differentiation and specification genes. Mutations in this gene are associated with Mitchell-Riley syndrome, which is characterized by neonatal diabetes with pancreatic hypoplasia, duodenal and jejunal atresia, and gall bladder agenesis.[provided by RefSeq, Sep 2010]

Known Variants245 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs188668937	6:117,198,244	G/A	—	likely benign
rs339357	6:117,198,291	G/C	—	benign
rs181819056	6:117,198,307	C/T	—	likely benign
rs572463546	6:117,198,319	C/G	—	likely benign
rs419400	6:117,198,347	G/C	—	benign
rs186979317	6:117,198,348	G/A	—	benign
rs9489056	6:117,198,488	C/A	—	benign
rs769415472	6:117,198,495	A/G	—	likely benign
rs146773792	6:117,198,500	C/A	—	uncertain significance
rs967660677	6:117,198,506	G/A	—	likely benign
rs1475490476	6:117,198,511	C/G	—	uncertain significance
rs759011697	6:117,198,540	C/G	—	likely benign
rs371890425	6:117,198,561	G/A	—	likely benign
rs762410099	6:117,198,571	G/C	—	uncertain significance
rs200522460	6:117,198,581	C/T	—	conflicting classifications of pathogenicity
rs765521990	6:117,198,599	G/A	—	uncertain significance
rs750558818	6:117,198,602	G/A	—	uncertain significance
rs368072920	6:117,198,603	C/T	—	benign
rs1774484879	6:117,198,604	G/T	—	likely pathogenic
rs1364016225	6:117,198,646	G/A	—	uncertain significance
rs371479688	6:117,198,648	G/A	—	likely benign
rs777356249	6:117,198,651	A/G	—	likely benign
rs201996097	6:117,198,661	G/C	—	likely benign
rs369655782	6:117,198,667	T/G	—	benign
rs371914374	6:117,198,669	C/G	—	likely benign
rs587776515	6:117,198,947	A/G	—	pathogenic
rs377721888	6:117,199,003	G/A	—	conflicting classifications of pathogenicity
rs775237371	6:117,199,005	C/T	—	likely benign
rs2482420778	6:117,199,006	G/A	—	uncertain significance
rs940840625	6:117,199,008	C/A	—	uncertain significance
rs1330544022	6:117,199,045	C/A	—	uncertain significance
rs1173080193	6:117,199,048	T/G	—	likely benign
rs201445250	6:117,199,070	A/G	—	uncertain significance
rs587776514	6:117,199,117	T/C	—	pathogenic
rs11754683	6:117,199,391	T/C	—	benign
rs630045	6:117,199,790	C/T	—	—
rs187105760	6:117,201,578	C/T	—	likely benign
rs145678004	6:117,201,715	A/G	—	uncertain significance
rs369019262	6:117,201,728	A/G	—	likely benign
rs769171416	6:117,201,838	A/G	—	likely benign
rs745575226	6:117,201,841	C/T	—	likely benign
rs2482427761	6:117,201,849	C/T	—	likely benign
rs57167027	6:117,201,985	A/C	—	benign
rs339353	6:117,202,475	C/T	—	—
rs78287946	6:117,203,521	T/C	—	benign
rs2114662048	6:117,203,531	C/T	—	uncertain significance
rs151067974	6:117,203,532	A/T	—	likely benign
rs587780440	6:117,203,566	C/T	missense variant	pathogenic
rs267607013	6:117,203,567	G/A	missense variant	pathogenic
rs1774608731	6:117,203,579	G/C	—	uncertain significance
rs2114662145	6:117,203,596	G/C	—	uncertain significance
rs73765878	6:117,203,811	C/A	—	benign
rs339328	6:117,208,509	G/C	—	—
rs339331	6:117,210,052	T/C	intron variant	—
rs339334	6:117,212,689	A/C	—	—
rs434499	6:117,213,614	T/C	intron variant	—
rs339339	6:117,214,866	A/C	—	benign
rs339340	6:117,215,114	T/C	—	benign
rs374634034	6:117,215,135	C/G	—	likely benign
rs1774884856	6:117,215,137	G/A	—	likely benign
rs781291978	6:117,215,159	C/A	—	likely pathogenic
rs774845102	6:117,215,201	C/T	—	uncertain significance
rs760182171	6:117,215,210	T/C	—	likely benign
rs1774888591	6:117,215,222	G/C	—	uncertain significance
rs2114672832	6:117,215,227	G/A	—	uncertain significance
rs761650045	6:117,215,242	T/C	—	likely benign
rs115615166	6:117,215,283	T/C	—	likely benign
rs1512654	6:117,215,300	G/A	—	benign
rs1406980	6:117,215,380	T/C	—	benign
rs339342	6:117,216,125	G/A	—	benign
rs746192969	6:117,216,326	T/C	—	likely benign
rs267607012	6:117,216,347	T/C	missense variant	pathogenic
rs587776516	6:117,216,372	T/G	—	pathogenic
rs117309016	6:117,216,401	C/T	—	likely benign
rs173089	6:117,216,666	C/T	—	benign
rs339299	6:117,222,162	T/G	intron variant	—
rs141461683	6:117,232,095	T/C	—	benign
rs188277006	6:117,232,111	G/A	—	uncertain significance
rs780273514	6:117,232,120	C/T	—	uncertain significance
rs1279349626	6:117,232,121	G/A	—	likely benign
rs372387409	6:117,232,163	C/T	—	likely benign
rs2482484739	6:117,232,187	A/T	—	likely benign
rs9489065	6:117,234,711	T/C	intron variant	—
rs1406982	6:117,236,853	T/A	intron variant	—
rs749273216	6:117,237,161	C/T	—	likely benign
rs2482492907	6:117,237,170	G/A	—	likely pathogenic
rs1252327387	6:117,237,172	T/C	—	uncertain significance
rs931311046	6:117,237,178	C/T	—	uncertain significance
rs112601012	6:117,237,179	G/A	—	likely benign
rs764389682	6:117,237,199	C/G	—	uncertain significance
rs1278609591	6:117,237,360	C/T	—	likely benign
rs1287138440	6:117,237,377	T/A	—	pathogenic
rs1775460105	6:117,237,383	A/C	—	uncertain significance
rs183355578	6:117,237,391	C/T	—	pathogenic
rs2482493905	6:117,237,412	C/T	—	uncertain significance
rs138602597	6:117,237,423	C/T	—	likely benign
rs1775461880	6:117,237,445	A/C	—	uncertain significance
rs1321372	6:117,237,524	G/A	—	benign
rs2184343	6:117,237,584	T/G	—	benign
rs13213246	6:117,239,086	A/C	—	benign

Showing 100 of 245 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.