CYB5R3

cytochrome b5 reductase 3

Summary

This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cytoplasmic side of the endoplasmic reticulum and functions in desaturation and elongation of fatty acids, in cholesterol biosynthesis, and in drug metabolism. The erythrocyte form is located in a soluble fraction of circulating erythrocytes and is involved in methemoglobin reduction. The membrane-bound form has both membrane-binding and catalytic domains, while the soluble form has only the catalytic domain. Alternate splicing results in multiple transcript variants. Mutations in this gene cause methemoglobinemias. [provided by RefSeq, Jan 2010]

Known Variants187 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs137123	22:43,015,492	G/T	—	benign
rs137124	22:43,015,716	T/C	—	benign
rs2518880653	22:43,015,779	T/C	—	uncertain significance
rs150607528	22:43,015,782	G/A	—	likely benign
rs61743746	22:43,015,787	C/T	—	benign
rs76458556	22:43,015,795	C/T	—	conflicting classifications of pathogenicity
rs768095972	22:43,015,801	G/A	—	uncertain significance
rs121965016	22:43,015,810	C/T	missense variant	pathogenic
rs773106001	22:43,015,814	C/T	—	uncertain significance
rs762602202	22:43,015,815	G/A	—	likely benign
rs1927862304	22:43,015,823	G/C	—	uncertain significance
rs1036533799	22:43,015,824	G/C	—	uncertain significance
rs141804743	22:43,015,839	G/A	—	benign
rs752824154	22:43,015,855	G/A	—	uncertain significance
rs764486407	22:43,015,878	C/T	—	likely benign
rs754251915	22:43,015,879	G/A	—	conflicting classifications of pathogenicity
rs373688908	22:43,015,880	G/T	—	uncertain significance
rs751269167	22:43,015,889	C/G	—	uncertain significance
rs769788490	22:43,015,909	C/T	—	uncertain significance
rs139299188	22:43,015,910	G/A	—	uncertain significance
rs144071404	22:43,015,928	C/T	—	pathogenic
rs759908671	22:43,015,929	G/A	—	likely benign
rs760622712	22:43,015,941	G/A	—	likely benign
rs794728011	22:43,015,952	C/A	—	pathogenic
rs371034075	22:43,015,959	G/A	—	likely benign
rs2071843	22:43,019,536	A/G	—	benign
rs2071844	22:43,019,562	T/C	—	benign
rs137127	22:43,019,632	A/C	—	benign
rs1222693225	22:43,019,802	G/A	—	likely benign
rs121965018	22:43,019,809	T/C	missense variant	pathogenic
rs763259379	22:43,019,820	C/T	—	pathogenic
rs199593698	22:43,019,826	C/A	—	uncertain significance
rs2518888073	22:43,019,828	T/C	—	uncertain significance
rs142077669	22:43,019,834	G/A	—	uncertain significance
rs121965010	22:43,019,873	G/A	stop gained	pathogenic
rs2518888257	22:43,019,885	C/T	—	uncertain significance
rs61745147	22:43,019,891	C/T	—	conflicting classifications of pathogenicity
rs1404222545	22:43,019,898	C/T	—	likely benign
rs372097479	22:43,019,913	G/A	—	likely benign
rs8190458	22:43,020,167	C/T	—	benign
rs137128	22:43,020,169	C/T	—	benign
rs137130	22:43,021,141	T/A	—	—
rs1928321967	22:43,023,293	T/C	—	likely benign
rs201255712	22:43,023,295	G/A	—	benign
rs1369861477	22:43,023,330	G/A	—	uncertain significance
rs121965015	22:43,023,332	C/T	missense variant	pathogenic
rs121965011	22:43,023,333	A/G	missense variant	pathogenic
rs764899974	22:43,023,356	T/C	—	uncertain significance
rs766291356	22:43,023,366	C/T	—	uncertain significance
rs200581263	22:43,023,368	C/T	—	uncertain significance
rs543277216	22:43,023,369	G/A	—	pathogenic
rs149851138	22:43,023,379	C/T	—	likely benign
rs139534909	22:43,023,385	C/T	—	likely benign
rs1479369894	22:43,023,407	C/A	—	uncertain significance
rs573516374	22:43,023,408	C/T	—	uncertain significance
rs766227257	22:43,023,412	C/T	—	likely benign
rs137136	22:43,023,527	G/A	—	benign
rs137137	22:43,023,535	A/G	—	benign
rs781677617	22:43,023,593	G/A	—	likely benign
rs770456347	22:43,023,596	G/A	—	likely benign
rs185699190	22:43,023,599	G/T	—	likely benign
rs377300664	22:43,023,604	C/T	—	likely benign
rs1161477501	22:43,023,610	C/T	—	likely pathogenic
rs144871462	22:43,023,621	C/T	—	likely benign
rs201232518	22:43,023,622	G/A	—	uncertain significance
rs530251354	22:43,023,623	C/T	missense variant	pathogenic
rs377689936	22:43,023,631	C/T	—	uncertain significance
rs1928355433	22:43,023,650	T/C	—	likely pathogenic
rs1928355620	22:43,023,651	G/C	—	uncertain significance
rs1442202553	22:43,023,655	A/G	—	uncertain significance
rs2518896137	22:43,023,676	G/C	—	uncertain significance
rs147079106	22:43,023,679	C/T	—	uncertain significance
rs61732609	22:43,023,680	G/A	stop gained	pathogenic
rs75478217	22:43,023,686	C/T	—	uncertain significance
rs149158903	22:43,023,687	G/A	—	likely benign
rs794728013	22:43,023,696	T/G	—	pathogenic
rs1010827622	22:43,023,712	G/C	—	likely benign
rs763223530	22:43,023,713	T/C	—	likely benign
rs2071846	22:43,023,939	T/G	—	benign
rs137138	22:43,023,980	A/G	—	benign
rs1928393730	22:43,024,138	G/C	—	likely benign
rs150048774	22:43,024,145	C/T	—	likely benign
rs200872504	22:43,024,150	C/T	splice region variant	likely benign
rs753088367	22:43,024,151	G/A	—	likely benign
rs1928395634	22:43,024,158	C/T	—	uncertain significance
rs121965008	22:43,024,175	A/G	missense variant	pathogenic
rs1928397593	22:43,024,181	C/G	—	uncertain significance
rs1928397782	22:43,024,184	C/G	—	uncertain significance
rs765970420	22:43,024,185	T/C	—	conflicting classifications of pathogenicity
rs751070920	22:43,024,186	G/A	—	likely benign
rs374075200	22:43,024,187	G/A	—	conflicting classifications of pathogenicity
rs780736098	22:43,024,188	G/A	—	uncertain significance
rs112669378	22:43,024,189	G/A	—	likely benign
rs1928401838	22:43,024,213	A/C	—	uncertain significance
rs1366673127	22:43,024,216	C/G	—	uncertain significance
rs766031719	22:43,024,227	C/G	—	uncertain significance
rs121965006	22:43,024,239	A/G	missense variant	pathogenic
rs367914897	22:43,024,254	C/T	—	uncertain significance
rs772310694	22:43,024,269	G/A	—	uncertain significance
rs775484973	22:43,024,270	G/C	—	likely benign

Showing 100 of 187 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.