Varaico: Literature-Extracted Genetic Variants

Gene:AKR1E2
Variant:p.L186W

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
2 papers
NM_001040177.3
p.L186W
c.557T>G
Surrounding Variants
1 paper
NM_001040177.3
p.P184H
c.551C>A
1 paper
NM_001040177.3
p.L181F
c.543G>C
1 paper
NM_001040177.3
p.L181F
c.543G>T
1 paper
NM_001040177.3
p.L181_N182insT
c.541_545ins3
5 papers
NM_001040177.3
p.Q194_I195Splc
c.582+1G>A
2 papers
NM_001040177.3
p.H174Y
c.520C>T
1 paper
NM_001040177.3
p.L158L
c.472C>T
1 paper
NM_001040177.3
p.D157H
c.469G>C
1 paper
NM_001040177.3
p.A154V
c.461C>T
1 paper
NM_001040177.3
p.E153E
c.459G>A
1 paper
NM_001040177.3
p.T151A
c.451A>G
1 paper
NM_001040177.3
p.T146A
c.436A>G
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