Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.Q57*

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.Q57*
c.169C>T
Surrounding Variants
1 paper
NM_000477.7
p.Q57K
c.169C>A
1 paper
NM_000477.7
p.Q57Q
c.171G>A
5 papers
NM_000477.7
p.Q56*
c.166C>T
1 paper
NM_000477.7
p.C58insFs
c.172_173insC
1 paper
NM_000477.7
p.L55L
c.165T>A
1 paper
NM_000477.7
p.L55H
c.164T>A
13 papers
NM_000477.7
p.L55P
c.164T>C
4 papers
NM_000477.7
p.L55I
c.163C>A
1 paper
NM_000477.7
p.P59A
c.175C>G
1 paper
NM_000477.7
p.P59S
c.175C>T
1 paper
NM_000477.7
p.L55delFs
c.165delT
1 paper
NM_000477.7
p.Y54C
c.161A>G
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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."