Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.R269R

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.R269R
c.807C>T
Surrounding Variants
1 paper
NM_001628.4
p.R269R
c.807C>A
1 paper
NM_001628.4
p.R269delFs
c.806delC
1 paper
NM_001628.4
p.E268V
c.803A>T
1 paper
NM_001628.4
p.E268A
c.803A>C
1 paper
NM_001628.4
p.A271insFs
c.812_813insAC
1 paper
NM_001628.4
p.E272K
c.814G>A
1 paper
NM_001628.4
p.T266delFs
c.797delG
1 paper
NM_001628.4
p.T266R
c.797C>G
1 paper
NM_001628.4
p.T266insFs
c.796dupA
1 paper
NM_001628.4
p.N273Y
c.817A>T
1 paper
NM_001628.4
p.N273I
c.818A>T
4 papers
NM_001628.4
p.N273N
c.819C>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."