Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.E449*

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.E449*
c.1345G>T
Surrounding Variants
1 paper
NM_000477.7
p.E449K
c.1345G>A
1 paper
NM_000477.7
p.S451L
c.1352C>T
1 paper
NM_000477.7
p.T444T
c.1332T>C
1 paper
NM_000477.7
p.P445_V448del4
c.1333_1343del12
1 paper
NM_000477.7
p.S443*
c.1328C>A
1 paper
NM_000477.7
p.Q441insFs
c.1322_1323ins5
1 paper
NM_000477.7
p.V457E
c.1370T>A
1 paper
NM_000477.7
p.P440_T444delFs
c.1320_1332del13
1 paper
NM_000477.7
p.P440S
c.1318C>T
1 paper
NM_000477.7
p.G458D
c.1373G>A
1 paper
NM_000477.7
p.V439G
c.1316T>G
2 papers
NM_000477.7
p.S459I
c.1376G>T
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