Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C2
Variant:p.Y55S

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.Y55S
c.164A>C
Surrounding Variants
4 papers
NM_001393392.1
p.Y55F
c.164A>T
1 paper
NM_001393392.1
p.Y55H
c.163T>C
1 paper
NM_001393392.1
p.V54A
c.161T>C
2 papers
NM_001393392.1
p.V54L
c.160G>C
1 paper
NM_001393392.1
p.A52V
c.155C>T
1 paper
NM_001393392.1
p.D50E
c.150T>G
1 paper
NM_001393392.1
p.D50E
c.150T>A
1 paper
NM_001393392.1
p.D50N
c.148G>A
1 paper
NM_001393392.1
p.G62R
c.184G>C
1 paper
NM_001393392.1
p.G62R
c.184G>A
1 paper
NM_001393392.1
p.H47H
c.141C>T
3 papers
NM_001393392.1
p.H47R
c.140A>G
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