Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C2

AKR1C2

133 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 C2

HGNC Previous Symbols

DDH2; TDD

Papers
RefSeq ID
Protein change
DNA change
1–12 of 113 variants
11 papers
NM_001393392.1
p.F46Y
c.137T>A
8 papers
NM_001393392.1
p.I79V
c.235A>G
7 papers
NM_001393392.1
p.H222Q
c.666T>G
7 papers
NM_001393392.1
p.H222Q
c.666T>A
7 papers
NM_001393392.1
p.N300T
c.899A>C
6 papers
NM_001393392.1
p.H90Q
c.270T>G
6 papers
NM_001393392.1
p.H90Q
c.270T>A
6 papers
NM_001393392.1
p.L172Q
c.515T>A
4 papers
NM_001393392.1
p.Y55F
c.164A>T
3 papers
NM_001393392.1
p.V38I
c.112G>A
3 papers
NM_001393392.1
p.V38A
c.113T>C
3 papers
NM_001393392.1
p.H47R
c.140A>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."