Varaico: Literature-Extracted Genetic Variants

Gene:AKR1E2
Variant:p.C72R

AKR1E2

73 papers

RefSeq Summary

The protein encoded by this gene is a member of the aldo-keto reductase superfamily. Members in this family are characterized by their structure (evolutionarily highly conserved TIM barrel) and functi...

Pfam Domains

Aldo_ket_redaa 6–298UCSCAldo/keto reductase family

Gene Aliases

HGNC Name

aldo-keto reductase family 1 member E2

HGNC Previous Symbols

AKRDC1; AKR1CL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001040177.3
p.C72R
c.214T>C
Surrounding Variants
1 paper
NM_001040177.3
p.C74R
c.220T>C
1 paper
NM_001040177.3
p.L79L
c.237G>A
1 paper
NM_001040177.3
p.V80E
c.239T>A
3 papers
NM_001040177.3
p.K86R
c.257A>G
1 paper
NM_001040177.3
p.S87N
c.260G>A
1 paper
NM_001040177.3
p.Y95C
c.284A>G
1 paper
NM_001040177.3
p.L96_D97ins5
c.286_290ins15
1 paper
NM_001040177.3
p.I101V
c.301A>G
1 paper
NM_001040177.3
p.P104P
c.312C>G
1 paper
NM_001040177.3
p.G106fs
c.316_317fs
1 paper
NM_001040177.3
p.G106delFs
c.318delT
1 paper
NM_001040177.3
p.I115N
c.344T>A
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