Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C1
Variant:p.Q190R

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.Q190R
c.569A>G
Surrounding Variants
1 paper
NM_001353.6
p.N189K
c.567C>A
1 paper
NM_001353.6
p.N189K
c.567C>G
1 paper
NM_001353.6
p.C188R
c.562T>C
1 paper
NM_001353.6
p.P186R
c.557C>G
2 papers
NM_001353.6
p.K185Q
c.553A>C
3 papers
NM_001353.6
p.K185E
c.553A>G
1 paper
NM_001353.6
p.K183R
c.548A>G
1 paper
NM_001353.6
p.P180L
c.539C>T
3 papers
NM_001353.6
p.P180S
c.538C>T
1 paper
NM_001353.6
p.K179Q
c.535A>C
1 paper
NM_001353.6
p.K179E
c.535A>G
1 paper
NM_001353.6
p.L177H
c.530T>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."