Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C1
Variant:p.V120E

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.V120E
c.359T>A
Surrounding Variants
1 paper
NM_001353.6
p.V120M
c.358G>A
1 paper
NM_001353.6
p.P119T
c.355C>A
1 paper
NM_001353.6
p.H117P
c.350A>C
1 paper
NM_001353.6
p.H117R
c.350A>G
3 papers
NM_001353.6
p.H117D
c.349C>G
1 paper
NM_001353.6
p.K123_P124Splc
c.369+1G>A
1 paper
NM_001353.6
p.I116T
c.347T>C
1 paper
NM_001353.6
p.L115del1
c.343_344delCTT
1 paper
NM_001353.6
p.L113P
c.338T>C
1 paper
NM_001353.6
p.L113R
c.338T>G
1 paper
NM_001353.6
p.L113V
c.337C>G
1 paper
NM_001353.6
p.D112G
c.335A>G
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