Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.Y425*

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
5 papers
NM_000477.7
p.Y425*
c.1275C>A
Surrounding Variants
2 papers
NM_000477.7
p.Y425*
c.1275C>G
1 paper
NM_000477.7
p.K426E
c.1276A>G
1 paper
NM_000477.7
p.K426R
c.1277A>G
1 paper
NM_000477.7
p.Q428insFs
c.1282dupC
1 paper
NM_000477.7
p.N429D
c.1285A>G
1 paper
NM_000477.7
p.L422_F427del0
c.1265_1279del15
1 paper
NM_000477.7
p.Q421R
c.1262A>G
2 papers
NM_000477.7
p.A430T
c.1288G>A
1 paper
NM_000477.7
p.A430E
c.1289C>A
10 papers
NM_000477.7
p.A430Splc
c.1289+1G>A
1 paper
NM_000477.7
p.A430Splc
c.1289+1G>C
1 paper
NM_000477.7
p.E420D
c.1260G>T
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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."