Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C1
Variant:p.Q260*

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
1 paper
NM_001353.6
p.Q260*
c.778C>T
Surrounding Variants
1 paper
NM_001353.6
p.Y259C
c.776A>G
3 papers
NM_001353.6
p.L261L
c.783A>G
2 papers
NM_001353.6
p.R258H
c.773G>A
1 paper
NM_001353.6
p.R258L
c.773G>T
1 paper
NM_001353.6
p.R258G
c.772C>G
5 papers
NM_001353.6
p.R258C
c.772C>T
1 paper
NM_001353.6
p.R263G
c.787C>G
2 papers
NM_001353.6
p.R263C
c.787C>T
1 paper
NM_001353.6
p.R263H
c.788G>A
2 papers
NM_001353.6
p.R263P
c.788G>C
2 papers
NM_001353.6
p.G264E
c.791G>A
1 paper
NM_001353.6
p.V266M
c.796G>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."