Varaico: Literature-Extracted Genetic Variants

Gene:AKR1A1
Variant:p.Q272Q

AKR1A1

124 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, also known as aldehyde reductase, is involved in the reductio...

Pfam Domains

Aldo_ket_redaa 16–294UCSCAldo/keto reductase family

Gene Aliases

HGNC Name

aldo-keto reductase family 1 member A1

HGNC Alias Symbols

ALR; DD3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_153326.3
p.Q272Q
c.816G>A
Surrounding Variants
1 paper
NM_153326.3
p.Q272E
c.814C>G
1 paper
NM_153326.3
p.S268P
c.802T>C
1 paper
NM_153326.3
p.T266N
c.797C>A
1 paper
NM_153326.3
p.R256W
c.766C>T
1 paper
NM_153326.3
p.Q255R
c.764A>G
1 paper
NM_153326.3
p.V254F
c.760G>T
1 paper
NM_153326.3
p.R251R
c.753G>A
1 paper
NM_153326.3
p.R251Splc
c.753-50G>T
1 paper
NM_153326.3
p.S282N
c.845G>A
1 paper
NM_153326.3
p.M286K
c.857T>A
1 paper
NM_153326.3
p.R251Splc
c.752+118G>C
1 paper
NM_153326.3
p.A291T
c.871G>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."