Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C1
Variant:p.K270K

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.K270K
c.810G>A
Surrounding Variants
1 paper
NM_001353.6
p.K270N
c.810G>C
1 paper
NM_001353.6
p.K270N
c.810G>T
1 paper
NM_001353.6
p.S271R
c.811A>C
1 paper
NM_001353.6
p.K270M
c.809A>T
1 paper
NM_001353.6
p.K270Q
c.808A>C
1 paper
NM_001353.6
p.K270E
c.808A>G
2 papers
NM_001353.6
p.S271N
c.812G>A
1 paper
NM_001353.6
p.S271R
c.813C>A
1 paper
NM_001353.6
p.S271R
c.813C>G
1 paper
NM_001353.6
p.Y272N
c.814T>A
1 paper
NM_001353.6
p.Y272C
c.815A>G
1 paper
NM_001353.6
p.L268P
c.803T>C
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