Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.E81*

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.E81*
c.241G>T
Surrounding Variants
1 paper
NM_000477.7
p.E81Q
c.241G>C
1 paper
NM_000477.7
p.E81A
c.242A>C
1 paper
NM_000477.7
p.D80E
c.240T>A
1 paper
NM_000477.7
p.D80A
c.239A>C
2 papers
NM_000477.7
p.D80V
c.239A>T
1 paper
NM_000477.7
p.E81D
c.243G>C
1 paper
NM_000477.7
p.E81D
c.243G>T
5 papers
NM_000477.7
p.D80N
c.238G>A
1 paper
NM_000477.7
p.D80H
c.238G>C
1 paper
NM_000477.7
p.D80Y
c.238G>T
1 paper
NM_000477.7
p.S82P
c.244T>C
1 paper
NM_000477.7
p.A79A
c.237T>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."