Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.R138*

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
13 papers
NM_000477.7
p.R138*
c.412C>T
Surrounding Variants
6 papers
NM_000477.7
p.R138G
c.412C>G
4 papers
NM_000477.7
p.R138Q
c.413G>A
1 paper
NM_000477.7
p.R138P
c.413G>C
1 paper
NM_000477.7
p.R138R
c.414A>C
1 paper
NM_000477.7
p.R138R
c.414A>T
1 paper
NM_000477.7
p.P137T
c.409C>A
1 paper
NM_000477.7
p.P137A
c.409C>G
1 paper
NM_000477.7
p.L139*
c.416T>A
1 paper
NM_000477.7
p.L136R
c.407T>G
1 paper
NM_000477.7
p.V140M
c.418G>A
1 paper
NM_000477.7
p.N135I
c.404A>T
2 papers
NM_000477.7
p.R141K
c.422G>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."