Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.C93S

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
2 papers
NM_001628.4
p.C93S
c.277T>A
Surrounding Variants
1 paper
NM_001628.4
p.C93S
c.278G>C
1 paper
NM_001628.4
p.C93C
c.279C>T
1 paper
NM_001628.4
p.A92T
c.274G>A
1 paper
NM_001628.4
p.Q94*
c.280C>T
1 paper
NM_001628.4
p.G91_C93ins1
c.271_279dup9
1 paper
NM_001628.4
p.G91_C93del0
c.271_279del9
1 paper
NM_001628.4
p.Q94H
c.282G>C
1 paper
NM_001628.4
p.K90N
c.270A>T
1 paper
NM_001628.4
p.K90*
c.268A>T
4 papers
NM_001628.4
p.K90E
c.268A>G
1 paper
NM_001628.4
p.K90Q
c.268A>C
1 paper
NM_001628.4
p.T96I
c.287C>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."