Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.W238*

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
6 papers
NM_000477.7
p.W238*
c.714G>A
Surrounding Variants
1 paper
NM_000477.7
p.A239P
c.715G>C
1 paper
NM_000477.7
p.W238Splc
c.714-1G>T
7 papers
NM_000477.7
p.W238Splc
c.714-2A>G
1 paper
NM_000477.7
p.A239V
c.716C>T
1 paper
NM_000477.7
p.A241A
c.723T>A
4 papers
NM_000477.7
p.R242S
c.724C>A
2 papers
NM_000477.7
p.R242C
c.724C>T
18 papers
NM_000477.7
p.R242H
c.725G>A
8 papers
NM_000477.7
p.R242P
c.725G>C
1 paper
NM_000477.7
p.R242L
c.725G>T
1 paper
NM_000477.7
p.R242R
c.726C>A
1 paper
NM_000477.7
p.R242_L243insFs
c.726_727ins11
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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."