Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C4
Variant:p.I79V

AKR1C4

311 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 C4

HGNC Previous Symbol

CHDR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001818.5
p.I79V
c.235A>G
Surrounding Variants
1 paper
NM_001818.5
p.I79insFs
c.236_237ins7
1 paper
NM_001818.5
p.E77G
c.230A>G
1 paper
NM_001818.5
p.R76T
c.227G>C
1 paper
NM_001818.5
p.K75*
c.223A>T
1 paper
NM_001818.5
p.K84R
c.251A>G
1 paper
NM_001818.5
p.K84M
c.251A>T
1 paper
NM_001818.5
p.S73C
c.217A>T
2 papers
NM_001818.5
p.R66Q
c.197G>A
1 paper
NM_001818.5
p.R66G
c.196C>G
1 paper
NM_001818.5
p.I65V
c.193A>G
1 paper
NM_001818.5
p.L63Q
c.188T>A
1 paper
NM_001818.5
p.G62*
c.184G>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."