FLVCR1

FLVCR choline and heme transporter 1

Summary

This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein is a heme transporter that may play a critical role in erythropoiesis by protecting developing erythroid cells from heme toxicity. This gene may play a role in posterior column ataxia with retinitis pigmentosa and the hematological disorder Diamond-Blackfan syndrome. [provided by RefSeq, Jan 2011]

Known Variants443 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886045921	1:213,031,614	A/G	—	uncertain significance
rs1572000804	1:213,031,627	C/G	—	uncertain significance
rs1664078764	1:213,031,629	G/C	—	uncertain significance
rs554048351	1:213,031,641	G/T	—	uncertain significance
rs1195891357	1:213,031,691	G/A	—	uncertain significance
rs41296692	1:213,031,708	G/A	—	likely benign
rs2201603	1:213,031,709	C/T	—	benign
rs886045922	1:213,031,759	G/A	—	uncertain significance
rs1323079807	1:213,031,788	C/T	—	uncertain significance
rs1468358104	1:213,031,796	T/C	—	pathogenic
rs899735028	1:213,031,797	G/T	—	pathogenic
rs1212330581	1:213,031,800	G/A	—	likely benign
rs998058913	1:213,031,801	C/T	—	uncertain significance
rs1264346150	1:213,031,803	G/C	—	likely benign
rs1440383588	1:213,031,809	C/T	—	likely benign
rs1029247819	1:213,031,812	T/A	—	uncertain significance
rs916015252	1:213,031,819	G/A	—	uncertain significance
rs1664091368	1:213,031,820	G/A	—	uncertain significance
rs1572001189	1:213,031,824	G/A	—	uncertain significance
rs111734301	1:213,031,834	C/T	—	conflicting classifications of pathogenicity
rs886045923	1:213,031,836	C/T	—	conflicting classifications of pathogenicity
rs543847452	1:213,031,843	C/G	—	uncertain significance
rs886045924	1:213,031,845	G/C	—	uncertain significance
rs1334605952	1:213,031,849	G/C	—	uncertain significance
rs374379789	1:213,031,863	C/T	—	likely benign
rs562153726	1:213,031,865	C/T	—	uncertain significance
rs1474359277	1:213,031,866	G/A	—	likely benign
rs937538361	1:213,031,869	G/A	—	likely benign
rs1664096106	1:213,031,871	C/T	—	uncertain significance
rs1424112205	1:213,031,872	G/T	—	likely benign
rs777071598	1:213,031,873	A/C	—	likely benign
rs746296931	1:213,031,876	G/A	—	uncertain significance
rs2464381565	1:213,031,877	G/A	—	uncertain significance
rs1360359949	1:213,031,878	C/A	—	likely benign
rs1558104145	1:213,031,881	G/C	—	likely pathogenic
rs529365517	1:213,031,882	C/T	—	uncertain significance
rs559268808	1:213,031,899	C/T	—	likely benign
rs1181313339	1:213,031,906	C/G	—	uncertain significance
rs2464381950	1:213,031,908	G/A	—	likely benign
rs532977695	1:213,031,927	G/A	—	uncertain significance
rs1572001487	1:213,031,931	C/T	—	uncertain significance
rs762104775	1:213,031,937	C/T	—	uncertain significance
rs1558104280	1:213,031,944	T/C	—	likely benign
rs2102525859	1:213,031,946	G/A	—	uncertain significance
rs11120047	1:213,031,948	G/C	—	benign
rs888507883	1:213,031,949	C/T	—	uncertain significance
rs2464382555	1:213,031,951	C/A	—	uncertain significance
rs941459032	1:213,031,959	C/T	—	likely benign
rs1039497994	1:213,031,963	C/G	—	uncertain significance
rs899682460	1:213,031,965	C/T	—	likely benign
rs2102526011	1:213,031,970	C/T	—	uncertain significance
rs1279641374	1:213,031,971	C/T	—	likely benign
rs569621196	1:213,031,972	G/T	—	uncertain significance
rs530387275	1:213,031,973	C/T	—	uncertain significance
rs778490394	1:213,031,977	G/C	—	likely benign
rs994628221	1:213,031,980	A/G	—	likely benign
rs1664107087	1:213,031,988	G/A	—	uncertain significance
rs567278590	1:213,031,992	G/T	—	likely benign
rs2102526152	1:213,031,995	T/C	—	likely benign
rs1664107730	1:213,031,996	C/T	—	likely pathogenic
rs1009263236	1:213,032,009	C/T	—	uncertain significance
rs1398603103	1:213,032,010	C/A	—	likely benign
rs767746826	1:213,032,030	C/T	—	uncertain significance
rs1251133617	1:213,032,035	C/T	—	uncertain significance
rs1178647785	1:213,032,040	G/A	—	likely benign
rs1664113426	1:213,032,045	C/T	—	uncertain significance
rs2102526428	1:213,032,047	G/A	—	uncertain significance
rs760414651	1:213,032,048	G/C	—	uncertain significance
rs371845105	1:213,032,050	G/A	—	uncertain significance
rs1664114810	1:213,032,057	C/A	—	uncertain significance
rs1553261817	1:213,032,061	G/A	—	uncertain significance
rs2464383857	1:213,032,063	C/A	—	uncertain significance
rs534403116	1:213,032,064	C/A	—	uncertain significance
rs765148657	1:213,032,073	C/T	—	likely benign
rs1286212185	1:213,032,081	G/A	—	uncertain significance
rs757889545	1:213,032,085	G/T	—	likely benign
rs777463003	1:213,032,086	C/T	—	likely benign
rs376377158	1:213,032,088	G/T	—	likely benign
rs1189185318	1:213,032,097	G/C	—	likely benign
rs1164572739	1:213,032,100	G/A	—	likely benign
rs769200783	1:213,032,101	C/T	—	uncertain significance
rs1169047994	1:213,032,106	C/T	—	likely benign
rs772065005	1:213,032,111	G/A	—	uncertain significance
rs773385018	1:213,032,113	C/A	—	uncertain significance
rs1664120208	1:213,032,116	T/G	—	uncertain significance
rs2102526758	1:213,032,117	T/C	—	uncertain significance
rs1414431300	1:213,032,118	C/A	—	uncertain significance
rs1291160597	1:213,032,121	G/C	—	likely benign
rs150645228	1:213,032,140	C/T	—	conflicting classifications of pathogenicity
rs2102526850	1:213,032,141	T/C	—	uncertain significance
rs752628417	1:213,032,148	G/C	—	likely benign
rs376428271	1:213,032,154	C/T	—	likely benign
rs267606820	1:213,032,155	A/G	missense variant	pathogenic
rs933848598	1:213,032,156	A/G	—	uncertain significance
rs1553261879	1:213,032,158	G/A	—	uncertain significance
rs374820446	1:213,032,160	C/T	—	likely benign
rs1189460003	1:213,032,163	T/A	—	uncertain significance
rs1251461956	1:213,032,166	G/A	—	likely benign
rs2464385404	1:213,032,169	G/A	—	likely pathogenic
rs2102526976	1:213,032,172	C/T	—	likely benign

Showing 100 of 443 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.