Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.Q409*

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
4 papers
NM_000477.7
p.Q409*
c.1225C>T
Surrounding Variants
1 paper
NM_000477.7
p.Q409R
c.1226A>G
1 paper
NM_000477.7
p.P408insFs
c.1223_1224insG
1 paper
NM_000477.7
p.Q409Q
c.1227G>A
1 paper
NM_000477.7
p.N410D
c.1228A>G
1 paper
NM_000477.7
p.P408A
c.1222C>G
1 paper
NM_000477.7
p.E407_P408del1
c.1221_1223delGCC
1 paper
NM_000477.7
p.E406A
c.1217A>C
4 papers
NM_000477.7
p.E406K
c.1216G>A
1 paper
NM_000477.7
p.I412T
c.1235T>C
6 papers
NM_000477.7
p.I412I
c.1236C>T
1 paper
NM_000477.7
p.K413delFs
c.1238_1239delAA
1 paper
NM_000477.7
p.Q414delFs
c.1240delC
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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."