Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C1
Variant:p.I79V

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.I79V
c.235A>G
Surrounding Variants
1 paper
NM_001353.6
p.I79K
c.236T>A
1 paper
NM_001353.6
p.D78G
c.233A>G
1 paper
NM_001353.6
p.D78H
c.232G>C
2 papers
NM_001353.6
p.F80S
c.239T>C
1 paper
NM_001353.6
p.E77G
c.230A>G
1 paper
NM_001353.6
p.K84E
c.250A>G
1 paper
NM_001353.6
p.K84R
c.251A>G
1 paper
NM_001353.6
p.K84M
c.251A>T
1 paper
NM_001353.6
p.A70V
c.209C>T
1 paper
NM_001353.6
p.I69T
c.206T>C
2 papers
NM_001353.6
p.R66Q
c.197G>A
1 paper
NM_001353.6
p.R66*
c.196C>T
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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."