Varaico: Literature-Extracted Genetic Variants

Gene:AKR1E2
Variant:p.R301*

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
5 papers
NM_001040177.3
p.R301*
c.901C>T
Surrounding Variants
1 paper
NM_001040177.3
p.F281V
c.841T>G
1 paper
NM_001040177.3
p.I278delFs
c.832_833delAT
1 paper
NM_001040177.3
p.I274fs
c.820_821fs
1 paper
NM_001040177.3
p.H273insFs
c.817dupC
1 paper
NM_001040177.3
p.P271_S272delFs
c.813_814delAA
3 papers
NM_001040177.3
p.R255*
c.763C>T
1 paper
NM_001040177.3
p.Q251_I252Splc
c.753+199C>T
1 paper
NM_001040177.3
p.Q251*
c.751C>T
1 paper
NM_001040177.3
p.G246C
c.736G>T
1 paper
NM_001040177.3
p.A242E
c.725C>A
1 paper
NM_001040177.3
p.A242S
c.724G>T
1 paper
NM_001040177.3
p.L232P
c.695T>C
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