ALB

albumin

Summary

This gene encodes the most abundant protein in human blood. This protein functions in the regulation of blood plasma colloid osmotic pressure and acts as a carrier protein for a wide range of endogenous molecules including hormones, fatty acids, and metabolites, as well as exogenous drugs. Additionally, this protein exhibits an esterase-like activity with broad substrate specificity. The encoded preproprotein is proteolytically processed to generate the mature protein. A peptide derived from this protein, EPI-X4, is an endogenous inhibitor of the CXCR4 chemokine receptor. [provided by RefSeq, Jul 2016]

Known Variants150 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs375806262	4:74,270,000	T/C	—	uncertain significance
rs369763404	4:74,270,032	C/T	—	likely benign
rs80008208	4:74,270,111	C/T	—	uncertain significance
rs72552709	4:74,270,112	G/A	—	other
rs74821926	4:74,270,115	G/C	missense variant	pathogenic
rs75353611	4:74,270,118	A/T	missense variant	pathogenic
rs141733599	4:74,270,123	C/T	missense variant	other
rs77408163	4:74,270,124	G/A	splice region variant	pathogenic
rs1269893823	4:74,270,833	A/C	—	uncertain significance
rs76285851	4:74,270,834	C/A	missense variant	uncertain significance
rs374543070	4:74,270,862	G/A	—	uncertain significance
rs147177161	4:74,270,864	T/C	—	likely benign
rs886059619	4:74,270,894	A/C	—	uncertain significance
rs75470261	4:74,272,374	C/T	stop gained	pathogenic
rs75152012	4:74,272,436	—	—	pathogenic
rs773743765	4:74,272,439	T/C	—	uncertain significance
rs200736287	4:74,272,456	C/G	—	uncertain significance
rs77050410	4:74,272,458	G/A	missense variant	other
rs78574148	4:74,272,467	G/A	missense variant	other
rs77892378	4:74,272,477	T/C	missense variant	pathogenic
rs55888080	4:74,274,303	C/T	—	benign
rs773096498	4:74,274,312	A/G	—	uncertain significance
rs760631028	4:74,274,315	C/A	—	uncertain significance
rs138715514	4:74,274,353	C/T	—	uncertain significance
rs764279820	4:74,274,354	G/A	—	uncertain significance
rs80296402	4:74,274,356	G/A	missense variant	other
rs142714816	4:74,274,363	A/G	—	conflicting classifications of pathogenicity
rs77238412	4:74,274,452	C/G	missense variant	pathogenic
rs75522063	4:74,274,467	G/A	missense variant	other
rs77752336	4:74,274,477	T/A	—	not provided
rs80095457	4:74,274,495	A/G	missense variant	other
rs78283180	4:74,275,080	A/G	missense variant	other
rs149432908	4:74,275,120	A/T	—	conflicting classifications of pathogenicity
rs777449887	4:74,275,152	C/T	—	uncertain significance
rs746490452	4:74,275,158	C/T	—	uncertain significance
rs281860282	4:74,275,186	T/A	—	not provided
rs77656691	4:74,275,191	G/T	missense variant	other
rs58639526	4:74,275,201	A/G	—	benign
rs55861135	4:74,275,218	G/T	—	benign
rs373114186	4:74,275,220	A/G	—	likely benign
rs61375018	4:74,276,026	T/C	—	benign
rs140065129	4:74,276,061	G/A	—	uncertain significance
rs202229149	4:74,277,699	G/A	—	benign
rs77335374	4:74,277,711	A/G	—	pathogenic
rs76454301	4:74,277,713	G/A	stop gained	pathogenic
rs1339083689	4:74,277,714	G/T	—	likely benign
rs75002628	4:74,277,724	G/C	missense variant	pathogenic
rs79804069	4:74,277,744	A/C	missense variant	uncertain significance
rs2476131514	4:74,277,775	T/C	—	uncertain significance
rs79377490	4:74,277,789	A/G	missense variant	other
rs774958805	4:74,277,799	C/T	—	uncertain significance
rs78340021	4:74,277,801	G/T	stop gained	not provided
rs2476131621	4:74,277,806	C/T	—	likely benign
rs56379403	4:74,277,852	C/T	—	benign
rs57193077	4:74,277,853	G/A	—	conflicting classifications of pathogenicity
rs80002911	4:74,279,168	A/G	missense variant	other
rs79744198	4:74,279,171	A/G	missense variant	benign
rs56167251	4:74,279,184	T/C	—	benign
rs2149328489	4:74,279,189	T/C	—	uncertain significance
rs74718349	4:74,279,193	G/C	missense variant	other
rs377046738	4:74,279,206	A/G	—	uncertain significance
rs2476134294	4:74,279,249	A/G	—	uncertain significance
rs201904433	4:74,279,263	G/C	—	uncertain significance
rs72552710	4:74,279,304	G/T	missense variant	uncertain significance
rs76242087	4:74,279,306	A/G	—	not provided
rs77544362	4:74,279,319	C/G	—	other
rs78953271	4:74,279,323	G/A	—	no classification for the single variant
rs72552711	4:74,279,326	G/A	missense variant	other
rs79568748	4:74,279,351	T/C	—	likely benign
rs2476134532	4:74,279,365	A/G	—	likely benign
rs370277014	4:74,280,741	A/G	—	uncertain significance
rs1037277082	4:74,280,760	A/G	—	uncertain significance
rs77354753	4:74,280,762	G/A	missense variant	other
rs537985931	4:74,280,766	A/G	—	likely benign
rs76593094	4:74,280,825	G/A	missense variant	other
rs75791663	4:74,280,837	G/A	missense variant	other
rs886059620	4:74,280,843	T/C	—	uncertain significance
rs149483745	4:74,280,852	G/T	—	uncertain significance
rs17854155	4:74,280,857	A/G	—	uncertain significance
rs77187142	4:74,280,858	G/C	missense variant	other
rs78538497	4:74,280,859	A/T	missense variant	uncertain significance
rs78166690	4:74,280,879	A/G	missense variant	other
rs78977679	4:74,280,895	T/A	—	benign
rs1376576354	4:74,281,956	A/G	—	likely benign
rs1719009522	4:74,281,974	T/C	—	uncertain significance
rs770952660	4:74,281,975	C/T	—	uncertain significance
rs77514449	4:74,281,976	G/C	missense variant	uncertain significance
rs79047363	4:74,281,979	G/A	missense variant	other
rs2476137865	4:74,281,988	C/A	—	uncertain significance
rs76483862	4:74,281,997	G/A	missense variant	other
rs75946332	4:74,282,006	C/A	—	conflicting classifications of pathogenicity
rs35683929	4:74,282,011	T/C	—	likely benign
rs1339287688	4:74,282,032	G/A	—	likely benign
rs1025342545	4:74,282,037	T/A	—	uncertain significance
rs376118733	4:74,282,050	A/G	—	likely benign
rs281860283	4:74,282,056	C/A	—	not provided
rs1719014628	4:74,282,085	T/C	—	likely benign
rs200085122	4:74,283,233	A/T	—	likely benign
rs57705126	4:74,283,242	T/C	—	benign
rs78575701	4:74,283,258	C/T	—	not provided

Showing 100 of 150 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.