Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.S89*

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
1 paper
NM_000477.7
p.S89*
c.266C>G
Surrounding Variants
2 papers
NM_000477.7
p.S89*
c.266C>A
1 paper
NM_000477.7
p.L90I
c.268C>A
1 paper
NM_000477.7
p.L90V
c.268C>G
3 papers
NM_000477.7
p.L90F
c.268C>T
1 paper
NM_000477.7
p.K88R
c.263A>G
8 papers
NM_000477.7
p.L90P
c.269T>C
1 paper
NM_000477.7
p.L90L
c.270T>G
4 papers
NM_000477.7
p.L90_H91Splc
c.270+1G>T
3 papers
NM_000477.7
p.D87A
c.260A>C
1 paper
NM_000477.7
p.D87G
c.260A>G
1 paper
NM_000477.7
p.D87V
c.260A>T
3 papers
NM_000477.7
p.D87N
c.259G>A
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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."