Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.W3*

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.W3*
c.8G>A
Surrounding Variants
3 papers
NM_000477.7
p.W3S
c.8G>C
1 paper
NM_000477.7
p.W3L
c.8G>T
1 paper
NM_000477.7
p.W3_T5del0
c.9_14del6
1 paper
NM_000477.7
p.W3*
c.9G>A
1 paper
NM_000477.7
p.W3C
c.9G>C
1 paper
NM_000477.7
p.W3_V4insFs
c.9_10insA
1 paper
NM_000477.7
p.W3R
c.7T>A
1 paper
NM_000477.7
p.W3R
c.7T>C
1 paper
NM_000477.7
p.K2K
c.6G>A
1 paper
NM_000477.7
p.V4I
c.10G>A
3 papers
NM_000477.7
p.K2N
c.6G>C
1 paper
NM_000477.7
p.V4insFs
c.10_11insA
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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."