Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C3
Variant:p.R223L

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.R223L
c.668G>T
Surrounding Variants
2 papers
NM_003739.6
p.R223Q
c.668G>A
1 paper
NM_003739.6
p.R226*
c.676C>T
1 paper
NM_003739.6
p.W227*
c.680G>A
1 paper
NM_003739.6
p.Y216C
c.647A>G
1 paper
NM_003739.6
p.Y216H
c.646T>C
3 papers
NM_003739.6
p.A215T
c.643G>A
1 paper
NM_003739.6
p.V214fs
c.640_641fs
1 paper
NM_003739.6
p.D210Y
c.628G>T
2 papers
NM_003739.6
p.S208L
c.623C>T
1 paper
NM_003739.6
p.F205F
c.615C>T
1 paper
NM_003739.6
p.F205V
c.613T>G
3 papers
NM_003739.6
p.R199Q
c.596G>A
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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."