Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C1
Variant:p.E322*

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.E322*
c.964G>T
Surrounding Variants
3 papers
NM_001353.6
p.Y323*
c.969T>A
3 papers
NM_001353.6
p.Y323*
c.969T>G
1 paper
NM_001353.6
p.*324E
c.970T>G
1 paper
NM_001353.6
p.P318_F319insFs
c.953_956dup4
1 paper
NM_001353.6
p.G313D
c.938G>A
4 papers
NM_001353.6
p.L308V
c.922C>G
1 paper
NM_001353.6
p.Y305F
c.914A>T
1 paper
NM_001353.6
p.R304Q
c.911G>A
1 paper
NM_001353.6
p.R304L
c.911G>T
1 paper
NM_001353.6
p.R301K
c.902G>A
1 paper
NM_001353.6
p.N300T
c.899A>C
1 paper
NM_001353.6
p.L299_N300insFs
c.897_898ins5
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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."