Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.R246K

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.R246K
c.737G>A
Surrounding Variants
3 papers
NM_000477.7
p.R246I
c.737G>T
1 paper
NM_000477.7
p.R246delFs
c.736delA
1 paper
NM_000477.7
p.F247F
c.741T>C
1 paper
NM_000477.7
p.P248L
c.743C>T
5 papers
NM_000477.7
p.K249Q
c.745A>C
1 paper
NM_000477.7
p.A250del1
c.748_750delGCT
1 paper
NM_000477.7
p.L243_S244delFs
c.728_731del4
1 paper
NM_000477.7
p.R242R
c.726C>A
1 paper
NM_000477.7
p.R242_L243insFs
c.726_727ins11
1 paper
NM_000477.7
p.A250T
c.748G>A
1 paper
NM_000477.7
p.A250insFs
c.750dupT
1 paper
NM_000477.7
p.A250V
c.749C>T
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