Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C1
Variant:p.S166Y

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.S166Y
c.497C>A
Surrounding Variants
1 paper
NM_001353.6
p.S166T
c.496T>A
1 paper
NM_001353.6
p.N167Y
c.499A>T
1 paper
NM_001353.6
p.N167T
c.500A>C
1 paper
NM_001353.6
p.V165A
c.494T>C
2 papers
NM_001353.6
p.V165M
c.493G>A
1 paper
NM_001353.6
p.F168L
c.502T>C
1 paper
NM_001353.6
p.F168L
c.504C>A
1 paper
NM_001353.6
p.F168L
c.504C>G
2 papers
NM_001353.6
p.G164R
c.490G>A
2 papers
NM_001353.6
p.G164R
c.490G>C
1 paper
NM_001353.6
p.N169S
c.506A>G
1 paper
NM_001353.6
p.I163T
c.488T>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."