Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.G272*

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
2 papers
NM_000477.7
p.G272*
c.814G>T
Surrounding Variants
4 papers
NM_000477.7
p.G272V
c.815G>T
1 paper
NM_000477.7
p.H271N
c.811C>A
1 paper
NM_000477.7
p.C270W
c.810C>G
1 paper
NM_000477.7
p.D273D
c.819T>C
1 paper
NM_000477.7
p.L274M
c.820C>A
2 papers
NM_000477.7
p.C270R
c.808T>C
1 paper
NM_000477.7
p.C270G
c.808T>G
1 paper
NM_000477.7
p.L275I
c.823C>A
1 paper
NM_000477.7
p.C269R
c.805T>C
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.L275P
c.824T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."