Varaico: Literature-Extracted Genetic Variants

Gene:AKR1A1

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
1–12 of 111 variants
6 papers
NM_153326.3
p.N52S
c.155A>G
3 papers
NM_153326.3
p.G51S
c.151G>A
3 papers
NM_153326.3
p.E55D
c.165G>C
3 papers
NM_153326.3
p.E55D
c.165G>T
3 papers
NM_153326.3
p.P180S
c.538C>T
2 papers
NM_153326.3
p.K23R
c.68A>G
2 papers
NM_153326.3
p.V33G
c.98T>G
2 papers
NM_153326.3
p.Y50F
c.149A>T
2 papers
NM_153326.3
p.A69A
c.207G>A
2 papers
NM_153326.3
p.V151M
c.451G>A
2 papers
NM_153326.3
p.Q184_V185Splc
c.552+282T>C
2 papers
NM_153326.3
p.V233I
c.697G>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."