Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C3
Variant:p.V281L

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.V281L
c.841G>C
Surrounding Variants
1 paper
NM_003739.6
p.V281L
c.841G>T
1 paper
NM_003739.6
p.K270R
c.809A>G
1 paper
NM_003739.6
p.V267F
c.799G>T
1 paper
NM_003739.6
p.V266A
c.797T>C
1 paper
NM_003739.6
p.R263H
c.788G>A
6 papers
NM_003739.6
p.R258C
c.772C>T
1 paper
NM_003739.6
p.P252T
c.754C>A
1 paper
NM_003739.6
p.T251S
c.751A>T
1 paper
NM_003739.6
p.Q282_V283Splc
c.846+127C>T
1 paper
NM_003739.6
p.S232F
c.695C>T
1 paper
NM_003739.6
p.P230L
c.689C>T
1 paper
NM_003739.6
p.W227Splc
c.680+121A>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."