Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.R122*

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.R122*
c.364A>T
Surrounding Variants
2 papers
NM_000477.7
p.E121D
c.363G>C
1 paper
NM_000477.7
p.E121D
c.363G>T
2 papers
NM_000477.7
p.E121A
c.362A>C
1 paper
NM_000477.7
p.N123H
c.367A>C
1 paper
NM_000477.7
p.N123D
c.367A>G
1 paper
NM_000477.7
p.N123Y
c.367A>T
2 papers
NM_000477.7
p.E121Q
c.361G>C
2 papers
NM_000477.7
p.N123I
c.368A>T
1 paper
NM_000477.7
p.P120P
c.360T>A
1 paper
NM_000477.7
p.P120T
c.358C>A
1 paper
NM_000477.7
p.P120S
c.358C>T
1 paper
NM_000477.7
p.E124Q
c.370G>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."