Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C1

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
1–12 of 256 variants
5 papers
NM_001353.6
p.L54V
c.160T>G
5 papers
NM_001353.6
p.R258C
c.772C>T
4 papers
NM_001353.6
p.L213Q
c.638T>A
4 papers
NM_001353.6
p.N280K
c.840C>A
4 papers
NM_001353.6
p.N280K
c.840C>G
4 papers
NM_001353.6
p.L308V
c.922C>G
3 papers
NM_001353.6
p.H117D
c.349C>G
3 papers
NM_001353.6
p.P180S
c.538C>T
3 papers
NM_001353.6
p.K185E
c.553A>G
3 papers
NM_001353.6
p.L261L
c.783A>G
3 papers
NM_001353.6
p.Y323*
c.969T>A
3 papers
NM_001353.6
p.Y323*
c.969T>G
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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."