RERE

arginine-glutamic acid dipeptide repeats

Summary

This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants641 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1058790	1:8,413,839	A/G	3 prime UTR variant	—
rs780153785	1:8,415,177	T/G	—	benign
rs755040465	1:8,415,185	A/G	—	likely benign
rs375871951	1:8,415,195	C/T	—	likely benign
rs148510143	1:8,415,508	G/A	—	likely benign
rs374518775	1:8,415,519	T/C	—	uncertain significance
rs1641251877	1:8,415,520	G/T	—	uncertain significance
rs1641252170	1:8,415,522	G/A	—	uncertain significance
rs745557455	1:8,415,523	G/A	—	likely benign
rs1256059156	1:8,415,526	G/C	—	uncertain significance
rs1641253006	1:8,415,552	T/C	—	uncertain significance
rs762564525	1:8,415,555	C/A	—	uncertain significance
rs774181617	1:8,415,571	G/A	—	likely benign
rs1641253525	1:8,415,575	G/A	—	uncertain significance
rs1313492554	1:8,415,584	T/C	—	uncertain significance
rs1553153669	1:8,415,596	A/T	—	likely pathogenic
rs765290933	1:8,415,601	G/A	—	likely benign
rs2522676687	1:8,415,608	G/A	—	uncertain significance
rs2522676726	1:8,415,614	A/G	—	uncertain significance
rs1553153672	1:8,415,617	G/A	—	uncertain significance
rs115891071	1:8,415,618	G/T	—	likely benign
rs146159811	1:8,415,627	T/C	—	likely benign
rs748768097	1:8,415,630	C/T	—	uncertain significance
rs143882788	1:8,415,631	C/A	—	likely benign
rs771893772	1:8,415,655	G/T	—	likely benign
rs1570011038	1:8,415,657	T/G	—	uncertain significance
rs1641257947	1:8,415,658	G/A	—	uncertain significance
rs772940396	1:8,415,664	C/A	—	uncertain significance
rs1641280806	1:8,416,146	A/C	—	likely benign
rs1473527313	1:8,416,150	G/C	—	likely benign
rs2522680084	1:8,416,159	C/T	—	uncertain significance
rs374213333	1:8,416,161	G/A	—	likely benign
rs2522680138	1:8,416,171	T/G	—	uncertain significance
rs1641282490	1:8,416,175	G/A	—	uncertain significance
rs1570013040	1:8,416,177	A/G	—	uncertain significance
rs1641282648	1:8,416,178	G/A	—	uncertain significance
rs151310146	1:8,416,179	C/T	—	uncertain significance
rs2522680251	1:8,416,189	T/C	—	uncertain significance
rs1158166019	1:8,416,190	C/A	—	pathogenic
rs200568184	1:8,416,191	G/T	—	uncertain significance
rs1641283252	1:8,416,193	G/A	—	uncertain significance
rs1349089760	1:8,416,195	G/A	—	likely benign
rs778643340	1:8,416,197	G/C	—	likely benign
rs149905224	1:8,416,216	T/C	—	likely benign
rs2522680444	1:8,416,218	G/A	—	likely benign
rs2124354095	1:8,416,219	G/A	—	pathogenic
rs2124354116	1:8,416,226	T/C	—	uncertain significance
rs770684746	1:8,416,227	G/A	—	likely benign
rs2522680567	1:8,416,231	G/C	—	uncertain significance
rs145740916	1:8,416,233	C/T	—	benign
rs768690444	1:8,416,234	G/A	—	uncertain significance
rs1641284945	1:8,416,239	G/A	—	likely benign
rs2522680624	1:8,416,240	G/C	—	uncertain significance
rs1474891926	1:8,416,247	G/C	—	uncertain significance
rs1641285492	1:8,416,250	C/G	—	uncertain significance
rs1057524139	1:8,416,255	T/C	missense variant	pathogenic
rs2522680742	1:8,416,257	G/A	—	likely benign
rs761746189	1:8,416,262	C/T	—	uncertain significance
rs201301030	1:8,416,263	G/A	—	likely benign
rs752416603	1:8,416,278	G/A	—	benign
rs369579455	1:8,416,285	G/A	—	uncertain significance
rs2522680959	1:8,416,290	A/C	—	likely benign
rs751496233	1:8,416,292	C/T	—	uncertain significance
rs372564547	1:8,416,296	G/A	—	likely benign
rs1174096486	1:8,416,297	C/A	—	uncertain significance
rs1401210094	1:8,418,240	A/G	—	likely benign
rs374970396	1:8,418,251	C/T	—	uncertain significance
rs370168149	1:8,418,253	C/T	—	benign
rs200722937	1:8,418,260	G/T	—	conflicting classifications of pathogenicity
rs2522692207	1:8,418,264	A/C	—	uncertain significance
rs1312955446	1:8,418,269	G/T	—	uncertain significance
rs1321809020	1:8,418,276	T/C	—	pathogenic
rs2124358993	1:8,418,281	G/T	—	likely benign
rs751232315	1:8,418,290	G/C	—	pathogenic
rs1553154130	1:8,418,291	T/C	—	pathogenic
rs1557582259	1:8,418,292	G/A	—	pathogenic
rs1557582271	1:8,418,295	A/G	—	pathogenic
rs1553154132	1:8,418,298	G/A	—	pathogenic
rs869312871	1:8,418,302	G/T	missense variant	pathogenic
rs1057520747	1:8,418,309	T/C	missense variant	pathogenic
rs756134309	1:8,418,320	G/A	—	likely benign
rs766239539	1:8,418,323	C/T	—	likely benign
rs2124359087	1:8,418,324	G/A	—	pathogenic
rs753600821	1:8,418,326	A/G	—	likely benign
rs529548316	1:8,418,331	C/G	—	uncertain significance
rs199623549	1:8,418,332	G/A	—	benign
rs370761311	1:8,418,333	T/C	—	likely benign
rs2522692663	1:8,418,336	A/G	—	uncertain significance
rs781403961	1:8,418,348	C/T	—	benign
rs2522692782	1:8,418,349	G/A	—	pathogenic
rs775889822	1:8,418,358	G/A	—	uncertain significance
rs1641381526	1:8,418,361	C/T	—	uncertain significance
rs769053249	1:8,418,362	G/A	—	likely benign
rs773957558	1:8,418,371	C/T	—	likely benign
rs530044762	1:8,418,374	T/C	—	benign
rs1482941610	1:8,418,375	G/C	—	uncertain significance
rs2124359266	1:8,418,377	C/T	—	uncertain significance
rs767001616	1:8,418,381	C/T	—	likely benign
rs370883107	1:8,418,388	C/T	—	likely benign
rs974307406	1:8,418,389	G/A	—	likely benign

Showing 100 of 641 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.