Varaico: Literature-Extracted Genetic Variants

Gene:AKR1A1
Variant:p.Q184_V185Splc

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
2 papers
NM_153326.3
p.Q184_V185Splc
c.552+282T>C
Surrounding Variants
1 paper
NM_153326.3
p.V185L
c.553G>C
1 paper
NM_153326.3
p.V185L
c.553G>T
1 paper
NM_153326.3
p.A202T
c.604G>A
1 paper
NM_153326.3
p.S211I
c.632G>T
1 paper
NM_153326.3
p.L213F
c.639G>C
1 paper
NM_153326.3
p.L213F
c.639G>T
1 paper
NM_153326.3
p.Q184_V185Splc
c.553-144T>G
1 paper
NM_153326.3
p.D217N
c.649G>A
1 paper
NM_153326.3
p.P223R
c.668C>G
2 papers
NM_153326.3
p.V233I
c.697G>A
1 paper
NM_153326.3
p.A236V
c.707C>T
1 paper
NM_153326.3
p.Y241H
c.721T>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."