Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.G95*

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.G95*
c.283G>T
Surrounding Variants
1 paper
NM_000477.7
p.G95R
c.283G>C
2 papers
NM_000477.7
p.G95A
c.284G>C
2 papers
NM_000477.7
p.F94L
c.282T>A
1 paper
NM_000477.7
p.F94L
c.282T>G
1 paper
NM_000477.7
p.G95G
c.285A>G
1 paper
NM_000477.7
p.F94L
c.280T>C
1 paper
NM_000477.7
p.F94fs
c.280_281fs
2 papers
NM_000477.7
p.D96A
c.287A>C
1 paper
NM_000477.7
p.L93P
c.278T>C
1 paper
NM_000477.7
p.L93I
c.277C>A
1 paper
NM_000477.7
p.L93F
c.277C>T
1 paper
NM_000477.7
p.F94delFs
c.282delT
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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."