PRRC2A

proline rich coiled-coil 2A

Summary

A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. This gene has microsatellite repeats which are associated with the age-at-onset of insulin-dependent diabetes mellitus (IDDM) and possibly thought to be involved with the inflammatory process of pancreatic beta-cell destruction during the development of IDDM. This gene is also a candidate gene for the development of rheumatoid arthritis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]

Known Variants246 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs140054334	6:31,587,042	C/T	upstream gene variant	—
rs2857694	6:31,587,870	A/T	regulatory region variant	—
rs3115665	6:31,589,264	C/G	regulatory region variant	—
rs115229219	6:31,590,675	G/A	—	uncertain significance
rs2736172	6:31,590,898	C/T	coding sequence variant	—
rs147474235	6:31,591,198	C/T	downstream gene variant	—
rs116417610	6:31,591,606	A/G	—	likely benign
rs201104501	6:31,591,618	C/T	—	likely benign
rs2260051	6:31,591,918	A/C	—	—
rs755147720	6:31,592,061	C/T	—	uncertain significance
rs2280801	6:31,592,064	C/T	—	benign
rs114928949	6:31,592,082	C/A	—	uncertain significance
rs375620542	6:31,592,221	C/A	—	likely benign
rs375506891	6:31,592,251	G/A	—	uncertain significance
rs752755768	6:31,592,269	G/A	—	uncertain significance
rs28732152	6:31,592,645	G/A	downstream gene variant	—
rs554299374	6:31,592,972	C/T	—	benign
rs1440022964	6:31,593,025	A/G	—	uncertain significance
rs749683857	6:31,593,029	C/G	—	uncertain significance
rs530847455	6:31,593,031	G/T	—	uncertain significance
rs149286621	6:31,593,059	C/T	—	uncertain significance
rs200800498	6:31,593,083	G/A	—	uncertain significance
rs569008444	6:31,593,237	A/T	—	uncertain significance
rs17200837	6:31,593,265	G/T	—	benign
rs1387136296	6:31,593,266	C/T	—	uncertain significance
rs1251790288	6:31,593,299	A/C	—	uncertain significance
rs148710175	6:31,593,320	C/T	—	uncertain significance
rs771615196	6:31,593,321	C/T	—	uncertain significance
rs2260000	6:31,593,476	A/G	regulatory region variant	—
rs180704814	6:31,593,559	C/G	—	likely benign
rs1217997708	6:31,593,582	A/G	—	uncertain significance
rs769386756	6:31,593,591	T/G	—	uncertain significance
rs575401082	6:31,593,798	C/T	—	uncertain significance
rs546085889	6:31,593,799	G/A	—	uncertain significance
rs368679462	6:31,593,807	C/T	—	uncertain significance
rs768204145	6:31,593,814	C/T	—	uncertain significance
rs147717718	6:31,593,815	G/C	—	likely benign
rs528285841	6:31,593,840	A/G	—	uncertain significance
rs34633614	6:31,593,844	G/A	—	uncertain significance
rs942144296	6:31,593,880	A/G	—	uncertain significance
rs2533668783	6:31,593,916	A/G	—	uncertain significance
rs2844470	6:31,594,181	A/T	downstream gene variant	—
rs3130071	6:31,594,628	T/A	—	benign
rs1775982455	6:31,594,778	T/G	—	likely benign
rs761441262	6:31,594,797	C/A	—	uncertain significance
rs1471968715	6:31,594,875	G/A	—	uncertain significance
rs563072458	6:31,594,920	T/A	—	uncertain significance
rs1179017080	6:31,594,925	C/T	—	uncertain significance
rs2533686203	6:31,594,932	A/C	—	uncertain significance
rs368037803	6:31,594,943	G/T	—	uncertain significance
rs62636592	6:31,594,946	G/A	—	uncertain significance
rs2736171	6:31,595,487	A/C	—	—
rs767581234	6:31,595,546	G/A	—	uncertain significance
rs146254949	6:31,595,657	G/A	—	uncertain significance
rs115697735	6:31,595,730	C/T	—	likely benign
rs146082098	6:31,595,749	C/T	—	uncertain significance
rs762231943	6:31,595,772	G/T	—	uncertain significance
rs566488623	6:31,595,794	C/T	—	uncertain significance
rs9469031	6:31,595,795	C/T	—	benign
rs767170288	6:31,595,804	C/T	—	uncertain significance
rs1006323055	6:31,595,834	T/A	—	uncertain significance
rs113101460	6:31,595,835	C/T	—	likely benign
rs1046080	6:31,595,882	C/A	missense variant	benign
rs774473052	6:31,595,897	C/T	—	uncertain significance
rs45544132	6:31,595,926	C/T	—	benign
rs991195694	6:31,595,944	G/C	—	likely benign
rs2533726321	6:31,597,065	C/T	—	uncertain significance
rs1390849259	6:31,597,104	A/G	—	uncertain significance
rs2533733120	6:31,597,352	C/T	—	uncertain significance
rs755160107	6:31,597,353	A/C	—	uncertain significance
rs777041015	6:31,597,456	A/C	—	benign
rs752878822	6:31,597,462	G/C	—	benign
rs1175890119	6:31,597,533	G/A	—	uncertain significance
rs777340343	6:31,597,614	A/G	—	uncertain significance
rs3130625	6:31,597,915	A/T	—	—
rs779568119	6:31,598,406	A/G	—	uncertain significance
rs779078330	6:31,598,425	G/A	—	uncertain significance
rs775844324	6:31,598,433	C/T	—	uncertain significance
rs2533758151	6:31,598,484	T/C	—	uncertain significance
rs3130626	6:31,598,489	A/G	—	benign
rs11538262	6:31,598,523	C/T	—	benign
rs150100255	6:31,598,524	G/A	—	uncertain significance
rs773008458	6:31,598,539	C/A	—	uncertain significance
rs78226731	6:31,598,555	G/A	—	likely benign
rs145531178	6:31,598,564	T/A	—	uncertain significance
rs777738037	6:31,599,008	G/A	—	uncertain significance
rs745457180	6:31,599,026	C/T	—	uncertain significance
rs750760947	6:31,599,074	A/G	—	uncertain significance
rs1223879712	6:31,599,103	C/A	—	likely benign
rs116345584	6:31,599,162	C/A	—	benign
rs150834465	6:31,599,169	G/A	—	uncertain significance
rs376177895	6:31,599,254	G/A	—	uncertain significance
rs12526375	6:31,599,261	C/G	—	benign
rs562825218	6:31,599,293	G/T	—	uncertain significance
rs2533779566	6:31,599,325	A/G	—	likely benign
rs1417159962	6:31,599,334	G/A	—	uncertain significance
rs746402424	6:31,599,355	C/T	—	uncertain significance
rs115591494	6:31,599,370	G/C	—	likely benign
rs2150519662	6:31,599,404	A/G	—	uncertain significance
rs750999997	6:31,599,434	A/G	—	uncertain significance

Showing 100 of 246 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.