Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C3
Variant:p.D50E

AKR1C3

195 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
Aldo_ket_redaa 18–301UCSCAldo/keto reductase family

Gene Aliases

HGNC Name

aldo-keto reductase family 1 member C3

HGNC Previous Symbol

HSD17B5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003739.6
p.D50E
c.150T>G
Surrounding Variants
1 paper
NM_003739.6
p.D50E
c.150T>A
1 paper
NM_003739.6
p.D50N
c.148G>A
1 paper
NM_003739.6
p.A52_L54Fs
c.154_162delinsTCCTGTTFs
1 paper
NM_003739.6
p.I49T
c.146T>C
1 paper
NM_003739.6
p.Y55S
c.164A>C
2 papers
NM_003739.6
p.Y55F
c.164A>T
1 paper
NM_003739.6
p.E58K
c.172G>A
1 paper
NM_003739.6
p.E58D
c.174G>C
2 papers
NM_003739.6
p.E59K
c.175G>A
1 paper
NM_003739.6
p.K39K
c.117A>G
1 paper
NM_003739.6
p.G62R
c.184G>A
1 paper
NM_003739.6
p.G62R
c.184G>C
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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."