Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.R24*

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.R24*
c.70C>T
Surrounding Variants
10 papers
NM_000477.7
p.R24Q
c.71G>A
4 papers
NM_000477.7
p.R24P
c.71G>C
3 papers
NM_000477.7
p.R24L
c.71G>T
1 paper
NM_000477.7
p.R23R
c.69T>A
1 paper
NM_000477.7
p.R23R
c.69T>C
4 papers
NM_000477.7
p.R23H
c.68G>A
1 paper
NM_000477.7
p.R23P
c.68G>C
1 paper
NM_000477.7
p.R23_R24insFs
c.69_70ins4
1 paper
NM_000477.7
p.R23L
c.68G>T
5 papers
NM_000477.7
p.R23C
c.67C>T
3 papers
NM_000477.7
p.D25N
c.73G>A
1 paper
NM_000477.7
p.D25A
c.74A>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."