Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C4
Variant:p.Y55S

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.Y55S
c.164A>C
Surrounding Variants
1 paper
NM_001818.5
p.Y55F
c.164A>T
1 paper
NM_001818.5
p.Y55N
c.163T>A
1 paper
NM_001818.5
p.N56T
c.167A>C
1 paper
NM_001818.5
p.N56S
c.167A>G
1 paper
NM_001818.5
p.E58A
c.173A>C
1 paper
NM_001818.5
p.E59G
c.176A>G
1 paper
NM_001818.5
p.E59V
c.176A>T
1 paper
NM_001818.5
p.Q60K
c.178C>A
1 paper
NM_001818.5
p.D50E
c.150T>A
1 paper
NM_001818.5
p.D50E
c.150T>G
1 paper
NM_001818.5
p.D50N
c.148G>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."