Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C3
Variant:p.V18L

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.V18L
c.52G>T
Surrounding Variants
1 paper
NM_003739.6
p.P17T
c.49C>A
1 paper
NM_003739.6
p.L19M
c.55T>A
1 paper
NM_003739.6
p.G20R
c.58G>A
1 paper
NM_003739.6
p.G20R
c.58G>C
1 paper
NM_003739.6
p.G22S
c.64G>A
1 paper
NM_003739.6
p.G13G
c.39C>G
1 paper
NM_003739.6
p.Y24H
c.70T>C
7 papers
NM_003739.6
p.Y24C
c.71A>G
1 paper
NM_003739.6
p.Y24F
c.71A>T
1 paper
NM_003739.6
p.A25V
c.74C>T
25 papers
NM_003739.6
p.H5Q
c.15C>A
30 papers
NM_003739.6
p.H5Q
c.15C>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."