Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.Q118*

ALB

1,939 papers

RefSeq 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 endogeno...

Pfam Domains

Serum_albuminaa 30–202UCSCSerum albumin family
Serum_albuminaa 222–394UCSCSerum albumin family
Serum_albuminaa 414–592UCSCSerum albumin family

Gene Aliases

HGNC Name

albumin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000477.7
p.Q118*
c.352C>T
Surrounding Variants
1 paper
NM_000477.7
p.K117K
c.351A>G
1 paper
NM_000477.7
p.Q118H
c.354A>C
1 paper
NM_000477.7
p.K117R
c.350A>G
1 paper
NM_000477.7
p.A116A
c.348A>C
1 paper
NM_000477.7
p.E119A
c.356A>C
1 paper
NM_000477.7
p.E119V
c.356A>T
1 paper
NM_000477.7
p.P120T
c.358C>A
1 paper
NM_000477.7
p.P120S
c.358C>T
2 papers
NM_000477.7
p.A116T
c.346G>A
1 paper
NM_000477.7
p.A116P
c.346G>C
1 paper
NM_000477.7
p.C115*
c.345T>A
2 papers
NM_000477.7
p.C115S
c.344G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."