Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C4
Variant:p.L241I

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.L241I
c.721C>A
Surrounding Variants
1 paper
NM_001818.5
p.A243T
c.727G>A
1 paper
NM_001818.5
p.E237G
c.710A>G
1 paper
NM_001818.5
p.K246*
c.736A>T
1 paper
NM_001818.5
p.L235P
c.704T>C
1 paper
NM_001818.5
p.S232F
c.695C>T
2 papers
NM_001818.5
p.Q250*
c.748C>T
1 paper
NM_001818.5
p.S232insFs
c.694_695insC
7 papers
NM_001818.5
p.Q250R
c.749A>G
1 paper
NM_001818.5
p.T251N
c.752C>A
1 paper
NM_001818.5
p.R258C
c.772C>T
5 papers
NM_001818.5
p.R258H
c.773G>A
1 paper
NM_001818.5
p.Q262R
c.785A>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."