Varaico: Literature-Extracted Genetic Variants

Gene:AKR1A1
Variant:p.K68_A69Splc

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.K68_A69Splc
c.205-79G>T
Surrounding Variants
2 papers
NM_153326.3
p.A69A
c.207G>A
1 paper
NM_153326.3
p.A69A
c.207G>C
1 paper
NM_153326.3
p.K68*
c.202A>T
1 paper
NM_153326.3
p.G67G
c.201C>T
1 paper
NM_153326.3
p.L81Q
c.242T>A
1 paper
NM_153326.3
p.D63N
c.187G>A
1 paper
NM_153326.3
p.E62K
c.184G>A
1 paper
NM_153326.3
p.E62_G65del4
c.184_194del12
1 paper
NM_153326.3
p.K85R
c.254A>G
1 paper
NM_153326.3
p.L60M
c.178C>A
1 paper
NM_153326.3
p.A59D
c.176C>A
1 paper
NM_153326.3
p.E58D
c.174G>C
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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."