Varaico: Literature-Extracted Genetic Variants

Gene:AKR1A1
Variant:p.D101N

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.D101N
c.301G>A
Surrounding Variants
1 paper
NM_153326.3
p.D101A
c.302A>C
1 paper
NM_153326.3
p.L102P
c.305T>C
1 paper
NM_153326.3
p.T98A
c.292A>G
1 paper
NM_153326.3
p.L104M
c.310C>A
1 paper
NM_153326.3
p.E105Q
c.313G>C
1 paper
NM_153326.3
p.E105A
c.314A>C
1 paper
NM_153326.3
p.L95I
c.283C>A
1 paper
NM_153326.3
p.L109V
c.325C>G
1 paper
NM_153326.3
p.E89fs
c.265_266fs
1 paper
NM_153326.3
p.P88delFs
c.264delC
1 paper
NM_153326.3
p.K85R
c.254A>G
1 paper
NM_153326.3
p.L81Q
c.242T>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."