Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C4
Variant:p.L144L

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
2 papers
NM_001818.5
p.L144L
c.432C>G
Surrounding Variants
1 paper
NM_001818.5
p.L144_S145insFs
c.432_433ins8
16 papers
NM_001818.5
p.S145C
c.434C>G
1 paper
NM_001818.5
p.V142G
c.425T>G
1 paper
NM_001818.5
p.W148L
c.443G>T
1 paper
NM_001818.5
p.D140N
c.418G>A
2 papers
NM_001818.5
p.D140H
c.418G>C
5 papers
NM_001818.5
p.G135E
c.404G>A
1 paper
NM_001818.5
p.D132A
c.395A>C
1 paper
NM_001818.5
p.D132N
c.394G>A
1 paper
NM_001818.5
p.T127T
c.381G>A
1 paper
NM_001818.5
p.G125V
c.374G>T
1 paper
NM_001818.5
p.E152Q
c.454G>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."