Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1

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
1–12 of 612 variants
102 papers
NM_001628.4
p.Q27E
c.79C>G
13 papers
NM_001628.4
p.Q60*
c.178C>T
11 papers
NM_001628.4
p.V57E
c.170T>A
11 papers
NM_001628.4
p.V89L
c.265G>C
11 papers
NM_001628.4
p.Y199F
c.596A>T
10 papers
NM_001628.4
p.V89L
c.265G>T
8 papers
NM_001628.4
p.G214R
c.640G>C
7 papers
NM_001628.4
p.M1V
c.1A>G
6 papers
NM_001628.4
p.R256W
c.766A>T
5 papers
NM_001628.4
p.M1T
c.2T>C
5 papers
NM_001628.4
p.P226L
c.677C>T
5 papers
NM_001628.4
p.M286K
c.857T>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."