Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.C77*

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.C77*
c.231T>A
Surrounding Variants
2 papers
NM_000477.7
p.V78I
c.232G>A
3 papers
NM_000477.7
p.V78fs
c.232_233fs
1 paper
NM_000477.7
p.V78D
c.233T>A
1 paper
NM_000477.7
p.V78A
c.233T>C
1 paper
NM_000477.7
p.T76T
c.228A>G
7 papers
NM_000477.7
p.C77delFs
c.229_230delTG
2 papers
NM_000477.7
p.V78V
c.234T>A
17 papers
NM_000477.7
p.T76_C77delFs
c.228_229delAT
1 paper
NM_000477.7
p.T76P
c.226A>C
1 paper
NM_000477.7
p.T76S
c.226A>T
1 paper
NM_000477.7
p.A79A
c.237T>A
5 papers
NM_000477.7
p.D80N
c.238G>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."