Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.E268*

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
8 papers
NM_000477.7
p.E268*
c.802G>T
Surrounding Variants
1 paper
NM_000477.7
p.E268K
c.802G>A
2 papers
NM_000477.7
p.E268Q
c.802G>C
2 papers
NM_000477.7
p.E268G
c.803A>G
1 paper
NM_000477.7
p.E268D
c.804A>C
1 paper
NM_000477.7
p.E268D
c.804A>T
1 paper
NM_000477.7
p.T267M
c.800C>T
1 paper
NM_000477.7
p.T267P
c.799A>C
1 paper
NM_000477.7
p.C269R
c.805T>C
1 paper
NM_000477.7
p.H266P
c.797A>C
1 paper
NM_000477.7
p.H266L
c.797A>T
1 paper
NM_000477.7
p.H266N
c.796C>A
2 papers
NM_000477.7
p.C270R
c.808T>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."