Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C2
Variant:p.A70S

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
1 paper
NM_001393392.1
p.A70S
c.208G>T
Surrounding Variants
1 paper
NM_001393392.1
p.A70V
c.209C>T
3 papers
NM_001393392.1
p.D71H
c.211G>C
1 paper
NM_001393392.1
p.S67S
c.201C>T
1 paper
NM_001393392.1
p.R66Q
c.197G>A
1 paper
NM_001393392.1
p.R66*
c.196C>T
1 paper
NM_001393392.1
p.R76T
c.227G>C
1 paper
NM_001393392.1
p.E77G
c.230A>G
1 paper
NM_001393392.1
p.G62R
c.184G>C
1 paper
NM_001393392.1
p.G62R
c.184G>A
8 papers
NM_001393392.1
p.I79V
c.235A>G
1 paper
NM_001393392.1
p.S83L
c.248C>T
2 papers
NM_001393392.1
p.K84M
c.251A>T
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