Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C1
Variant:p.L54V

AKR1C1

136 papers

RefSeq Summary

This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their co...

Pfam Domains

Aldo_ket_redaa 18–301UCSCAldo/keto reductase family

Gene Aliases

HGNC Name

aldo-keto reductase family 1 member C1

HGNC Previous Symbol

DDH1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001353.6
p.L54V
c.160T>G
Surrounding Variants
1 paper
NM_001353.6
p.L54F
c.162A>C
1 paper
NM_001353.6
p.L54F
c.162A>T
2 papers
NM_001353.6
p.Y55H
c.163T>C
1 paper
NM_001353.6
p.Y55S
c.164A>C
1 paper
NM_001353.6
p.Y55C
c.164A>G
1 paper
NM_001353.6
p.Y55F
c.164A>T
1 paper
NM_001353.6
p.N57D
c.169A>G
1 paper
NM_001353.6
p.D50E
c.150T>A
1 paper
NM_001353.6
p.D50E
c.150T>G
1 paper
NM_001353.6
p.D50G
c.149A>G
1 paper
NM_001353.6
p.D50N
c.148G>A
1 paper
NM_001353.6
p.E58K
c.172G>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."