RORC

RAR related orphan receptor C

Summary

The protein encoded by this gene is a DNA-binding transcription factor and is a member of the NR1 subfamily of nuclear hormone receptors. The specific functions of this protein are not known; however, studies of a similar gene in mice have shown that this gene may be essential for lymphoid organogenesis and may play an important regulatory role in thymopoiesis. In addition, studies in mice suggest that the protein encoded by this gene may inhibit the expression of Fas ligand and IL2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants257 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs199723679	1:151,779,960	C/A	—	likely benign
rs1420634082	1:151,779,970	G/C	—	uncertain significance
rs1469359718	1:151,779,974	C/T	—	uncertain significance
rs200482554	1:151,779,975	G/A	—	benign
rs199556058	1:151,779,993	C/T	—	likely benign
rs754827467	1:151,780,015	G/A	—	uncertain significance
rs1297798833	1:151,780,016	C/T	—	uncertain significance
rs781238253	1:151,780,017	G/A	—	likely benign
rs200884022	1:151,780,020	T/C	—	likely benign
rs2525594977	1:151,780,026	C/T	—	likely benign
rs138308209	1:151,780,028	C/T	—	uncertain significance
rs1323586530	1:151,780,037	G/A	—	uncertain significance
rs2525595047	1:151,780,041	G/A	—	likely benign
rs1572032352	1:151,780,049	A/T	—	uncertain significance
rs1177503789	1:151,780,058	G/C	—	uncertain significance
rs369382764	1:151,780,078	C/G	—	uncertain significance
rs2101649238	1:151,780,098	C/G	—	uncertain significance
rs200531029	1:151,780,099	T/C	—	benign
rs1040649839	1:151,780,101	G/C	—	likely benign
rs1572032393	1:151,780,104	T/G	—	likely benign
rs2101649273	1:151,780,113	G/C	—	likely benign
rs2101649279	1:151,780,117	T/C	—	likely benign
rs2525595422	1:151,780,129	G/T	—	likely benign
rs3828057	1:151,780,177	T/C	—	benign
rs11588258	1:151,780,728	A/C	—	—
rs939595	1:151,783,688	C/A	—	benign
rs1651516366	1:151,783,784	C/T	—	likely benign
rs113195254	1:151,783,805	G/A	—	uncertain significance
rs200283675	1:151,783,838	T/A	—	uncertain significance
rs200854121	1:151,783,840	A/T	—	uncertain significance
rs200556721	1:151,783,862	T/C	—	likely benign
rs144826157	1:151,783,867	C/T	—	likely benign
rs911262602	1:151,783,868	T/G	—	uncertain significance
rs750071909	1:151,783,873	C/T	—	likely benign
rs863225092	1:151,783,875	G/A	stop gained	pathogenic
rs148168558	1:151,783,892	T/C	—	uncertain significance
rs1222050210	1:151,783,908	G/A	—	uncertain significance
rs769733906	1:151,783,920	G/A	—	likely benign
rs987415040	1:151,783,921	G/A	—	likely benign
rs2525607262	1:151,783,928	A/T	—	likely benign
rs2101655548	1:151,785,415	A/T	—	likely benign
rs202038919	1:151,785,423	G/A	—	uncertain significance
rs147363563	1:151,785,424	G/T	—	uncertain significance
rs2101655603	1:151,785,441	G/C	—	uncertain significance
rs1039869799	1:151,785,458	A/G	—	uncertain significance
rs200523716	1:151,785,461	T/C	—	uncertain significance
rs2525611980	1:151,785,466	C/T	—	likely benign
rs749314860	1:151,785,469	G/A	—	likely benign
rs774691650	1:151,785,481	G/C	—	likely benign
rs900022540	1:151,785,483	C/T	—	uncertain significance
rs1281277876	1:151,785,499	G/A	—	likely benign
rs200134900	1:151,785,510	T/C	—	uncertain significance
rs2525612188	1:151,785,515	C/G	—	uncertain significance
rs2101655715	1:151,785,523	C/T	—	likely benign
rs1651600339	1:151,785,538	T/A	—	likely benign
rs372774021	1:151,785,700	C/T	—	likely benign
rs1558164428	1:151,785,724	G/A	—	likely pathogenic
rs1443790515	1:151,785,738	C/G	—	uncertain significance
rs1651610525	1:151,785,747	T/A	—	uncertain significance
rs201953038	1:151,785,764	C/T	—	likely benign
rs757895511	1:151,785,765	G/A	—	uncertain significance
rs200446012	1:151,785,768	C/T	—	uncertain significance
rs750446790	1:151,785,769	G/A	—	uncertain significance
rs201629608	1:151,785,771	T/C	—	uncertain significance
rs1185658864	1:151,785,788	C/T	—	likely benign
rs1572036408	1:151,785,790	G/C	—	uncertain significance
rs1651612802	1:151,785,791	G/A	—	likely benign
rs199641073	1:151,785,800	A/G	—	benign
rs369002008	1:151,785,803	C/G	—	likely benign
rs139551639	1:151,785,819	G/A	—	likely benign
rs199838177	1:151,785,826	G/T	—	benign
rs2101656219	1:151,785,835	G/A	—	likely benign
rs1005154151	1:151,785,946	C/T	—	uncertain significance
rs2101656406	1:151,785,968	T/C	—	uncertain significance
rs1286278056	1:151,785,985	G/T	—	uncertain significance
rs1473571362	1:151,785,998	G/A	—	likely benign
rs770666776	1:151,786,013	T/C	—	likely benign
rs1001402492	1:151,786,016	G/A	—	likely benign
rs1651625342	1:151,786,027	C/A	—	uncertain significance
rs745845256	1:151,786,028	G/A	—	likely benign
rs2101656505	1:151,786,038	A/G	—	uncertain significance
rs61754474	1:151,786,040	G/A	—	likely benign
rs1572036625	1:151,786,043	C/T	—	likely benign
rs863225091	1:151,786,045	G/A	stop gained	pathogenic
rs191835080	1:151,786,055	G/A	—	likely benign
rs2525615423	1:151,786,065	T/C	—	uncertain significance
rs147748693	1:151,786,070	A/G	—	benign
rs765568492	1:151,786,075	G/T	—	likely benign
rs2101656625	1:151,786,097	C/T	—	likely pathogenic
rs1434021169	1:151,786,102	G/A	—	likely benign
rs141521274	1:151,787,037	C/T	—	likely benign
rs1466228890	1:151,787,040	C/T	—	likely benign
rs1651672789	1:151,787,052	T/G	—	uncertain significance
rs2525619518	1:151,787,060	T/A	—	uncertain significance
rs2525619529	1:151,787,062	G/A	—	likely benign
rs764387593	1:151,787,065	A/G	—	likely benign
rs2525619548	1:151,787,067	T/A	—	uncertain significance
rs758239791	1:151,787,078	C/T	—	uncertain significance
rs202230139	1:151,787,080	G/C	—	likely benign
rs200455794	1:151,787,095	G/A	—	likely benign

Showing 100 of 257 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.