Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C4
Variant:p.C188G

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.C188G
c.562T>G
Surrounding Variants
1 paper
NM_001818.5
p.V187D
c.560T>A
1 paper
NM_001818.5
p.V187A
c.560T>C
1 paper
NM_001818.5
p.K183R
c.548A>G
1 paper
NM_001818.5
p.P180S
c.538C>T
1 paper
NM_001818.5
p.I176L
c.526A>C
1 paper
NM_001818.5
p.E174*
c.520G>T
1 paper
NM_001818.5
p.L173Q
c.518T>A
1 paper
NM_001818.5
p.Q172Q
c.516G>A
1 paper
NM_001818.5
p.Q172H
c.516G>T
1 paper
NM_001818.5
p.L159V
c.475T>G
1 paper
NM_001818.5
p.D156A
c.467A>C
1 paper
NM_001818.5
p.D156G
c.467A>G
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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."