Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.L127*

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.L127*
c.380T>A
Surrounding Variants
1 paper
NM_000477.7
p.L127F
c.381G>C
1 paper
NM_000477.7
p.L127F
c.381G>T
1 paper
NM_000477.7
p.F126L
c.378C>A
1 paper
NM_000477.7
p.F126L
c.378C>G
1 paper
NM_000477.7
p.F126Y
c.377T>A
1 paper
NM_000477.7
p.F126L
c.376T>C
1 paper
NM_000477.7
p.C125W
c.375C>G
1 paper
NM_000477.7
p.H129R
c.386A>G
2 papers
NM_000477.7
p.K130E
c.388A>G
1 paper
NM_000477.7
p.E124Q
c.370G>C
1 paper
NM_000477.7
p.D131N
c.391G>A
3 papers
NM_000477.7
p.D131G
c.392A>G
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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."