Varaico: Literature-Extracted Genetic Variants

Gene:AKR1E2
Variant:p.M1I

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.M1I
c.3G>T
Surrounding Variants
1 paper
NM_001040177.3
p.M1I
c.3G>A
1 paper
NM_001040177.3
p.M1I
c.3G>C
1 paper
NM_001040177.3
p.M1K
c.2T>A
1 paper
NM_001040177.3
p.L9H
c.26T>A
1 paper
NM_001040177.3
p.K13N
c.39G>C
1 paper
NM_001040177.3
p.G17G
c.51G>T
1 paper
NM_001040177.3
p.V19A
c.56T>C
1 paper
NM_001040177.3
p.T20T
c.60C>A
1 paper
NM_001040177.3
p.A22V
c.65C>T
1 paper
NM_001040177.3
p.D28D
c.84C>T
1 paper
NM_001040177.3
p.R32R
c.96G>C
1 paper
NM_001040177.3
p.R32_H33insFs
c.96_97ins5
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