Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C1
Variant:p.S221F

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.S221F
c.662C>T
Surrounding Variants
1 paper
NM_001353.6
p.S221Y
c.662C>A
1 paper
NM_001353.6
p.S221T
c.661T>A
1 paper
NM_001353.6
p.S221P
c.661T>C
1 paper
NM_001353.6
p.G220V
c.659G>T
2 papers
NM_001353.6
p.H222H
c.666C>T
1 paper
NM_001353.6
p.R223L
c.668G>T
1 paper
NM_001353.6
p.S217fs
c.649_650fs
1 paper
NM_001353.6
p.Y216C
c.647A>G
2 papers
NM_001353.6
p.Y216N
c.646T>A
1 paper
NM_001353.6
p.Y216H
c.646T>C
1 paper
NM_001353.6
p.W227R
c.679T>A
1 paper
NM_001353.6
p.W227R
c.679T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."