Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.K437*

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
3 papers
NM_000477.7
p.K437*
c.1309A>T
Surrounding Variants
1 paper
NM_000477.7
p.T436T
c.1308C>A
1 paper
NM_000477.7
p.K437delFs
c.1309delA
1 paper
NM_000477.7
p.Y435*
c.1305C>A
1 paper
NM_000477.7
p.V439G
c.1316T>G
3 papers
NM_000477.7
p.R434C
c.1300C>T
1 paper
NM_000477.7
p.P440S
c.1318C>T
1 paper
NM_000477.7
p.P440_T444delFs
c.1320_1332del13
2 papers
NM_000477.7
p.V433insFs
c.1297_1298insT
1 paper
NM_000477.7
p.Q441insFs
c.1322_1323ins5
3 papers
NM_000477.7
p.L431fs
c.1291_1292fs
1 paper
NM_000477.7
p.S443*
c.1328C>A
1 paper
NM_000477.7
p.L431delFs
c.1291delC
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