Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.Q27E

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
102 papers
NM_001628.4
p.Q27E
c.79C>G
Surrounding Variants
1 paper
NM_001628.4
p.P25_G26delFs
c.75_76delCT
1 paper
NM_001628.4
p.P25_G26insFs
c.75_76insA
2 papers
NM_001628.4
p.G26R
c.76G>A
1 paper
NM_001628.4
p.P25A
c.73C>G
1 paper
NM_001628.4
p.T29A
c.85A>G
1 paper
NM_001628.4
p.P24L
c.71C>T
1 paper
NM_001628.4
p.P24S
c.70C>T
2 papers
NM_001628.4
p.E30E
c.90G>A
1 paper
NM_001628.4
p.S23Y
c.68C>A
1 paper
NM_001628.4
p.S23delFs
c.67delA
1 paper
NM_001628.4
p.S23A
c.67T>G
1 paper
NM_001628.4
p.A31S
c.91G>T
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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."