Varaico: Literature-Extracted Genetic Variants

Gene:AKR1E2
Variant:p.V215M

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.V215M
c.643G>A
Surrounding Variants
1 paper
NM_001040177.3
p.D214_A219delFs
c.640_656del17
1 paper
NM_001040177.3
p.R221C
c.661C>T
1 paper
NM_001040177.3
p.F209L
c.625T>C
1 paper
NM_001040177.3
p.R221L
c.662G>T
1 paper
NM_001040177.3
p.K204N
c.612G>C
1 paper
NM_001040177.3
p.K204_N205insFs
c.612_613insT
1 paper
NM_001040177.3
p.K204N
c.612G>T
1 paper
NM_001040177.3
p.Q203delFs
c.608delA
1 paper
NM_001040177.3
p.P199P
c.597A>G
1 paper
NM_001040177.3
p.E196K
c.586G>A
1 paper
NM_001040177.3
p.Q194_I195Splc
c.583-57G>C
1 paper
NM_001040177.3
p.L232P
c.695T>C
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