Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.W296C

AKR1B1

1,820 papers

RefSeq Summary

This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member catalyzes the reduction of a number of aldehydes, including th...

Pfam Domains

Aldo_ket_redaa 15–294UCSCAldo/keto reductase family

Gene Aliases

HGNC Name

aldo-keto reductase family 1 member B

HGNC Previous Symbol

ALDR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001628.4
p.W296C
c.888G>C
Surrounding Variants
1 paper
NM_001628.4
p.R297G
c.889A>G
1 paper
NM_001628.4
p.W296_R297insC
c.886_890ins3
1 paper
NM_001628.4
p.N295S
c.884A>G
1 paper
NM_001628.4
p.V298G
c.893T>G
1 paper
NM_001628.4
p.V298V
c.894C>T
1 paper
NM_001628.4
p.R294W
c.880A>T
1 paper
NM_001628.4
p.N293delFs
c.879delG
2 papers
NM_001628.4
p.A300S
c.898G>T
1 paper
NM_001628.4
p.A300T
c.898G>A
2 papers
NM_001628.4
p.N293Y
c.877A>T
1 paper
NM_001628.4
p.N293D
c.877A>G
1 paper
NM_001628.4
p.L301M
c.901T>A
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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."