Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C2
Variant:p.H222H

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
Selected Variant
2 papers
NM_001393392.1
p.H222H
c.666T>C
Surrounding Variants
7 papers
NM_001393392.1
p.H222Q
c.666T>G
7 papers
NM_001393392.1
p.H222Q
c.666T>A
1 paper
NM_001393392.1
p.H222R
c.665A>G
1 paper
NM_001393392.1
p.R223L
c.668G>T
1 paper
NM_001393392.1
p.G220G
c.660A>T
1 paper
NM_001393392.1
p.G220R
c.658G>A
2 papers
NM_001393392.1
p.Y216N
c.646T>A
1 paper
NM_001393392.1
p.A215T
c.643G>A
1 paper
NM_001393392.1
p.L202L
c.606G>A
1 paper
NM_001393392.1
p.H194R
c.581A>G
2 papers
NM_001393392.1
p.W227Splc
c.681-56C>T
1 paper
NM_001393392.1
p.V234V
c.702G>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."