Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C1
Variant:p.N280K

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
4 papers
NM_001353.6
p.N280K
c.840C>A
Surrounding Variants
4 papers
NM_001353.6
p.N280K
c.840C>G
1 paper
NM_001353.6
p.N280T
c.839A>C
1 paper
NM_001353.6
p.V281L
c.841G>C
1 paper
NM_001353.6
p.V281L
c.841G>T
1 paper
NM_001353.6
p.I277fs
c.829_830fs
1 paper
NM_001353.6
p.R276S
c.826C>A
1 paper
NM_001353.6
p.R276G
c.826C>G
1 paper
NM_001353.6
p.R276C
c.826C>T
1 paper
NM_001353.6
p.Q275*
c.823C>T
1 paper
NM_001353.6
p.Y272C
c.815A>G
1 paper
NM_001353.6
p.Y272N
c.814T>A
1 paper
NM_001353.6
p.S271R
c.813C>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."