Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.E466*

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.E466*
c.1396G>T
Surrounding Variants
3 papers
NM_000477.7
p.A467T
c.1399G>A
1 paper
NM_000477.7
p.A467S
c.1399G>T
3 papers
NM_000477.7
p.H464Q
c.1392T>A
3 papers
NM_000477.7
p.H464Q
c.1392T>G
1 paper
NM_000477.7
p.A467A
c.1401A>G
1 paper
NM_000477.7
p.K463Q
c.1387A>C
1 paper
NM_000477.7
p.C472S
c.1415G>C
2 papers
NM_000477.7
p.S459I
c.1376G>T
1 paper
NM_000477.7
p.G458D
c.1373G>A
1 paper
NM_000477.7
p.E474Q
c.1420G>C
2 papers
NM_000477.7
p.E474D
c.1422A>C
3 papers
NM_000477.7
p.E474D
c.1422A>T
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