Varaico: Literature-Extracted Genetic Variants

Gene:ENOPH1

ENOPH1

27 papers

Pfam Domains

Hydrolaseaa 3–136UCSChaloacid dehalogenase-like hydrolase
Hydrolaseaa 10–224UCSChaloacid dehalogenase-like hydrolase

Gene Aliases

HGNC Name

enolase-phosphatase 1

HGNC Alias Symbols

MASA; E1; mtnC

Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
2 papers
NM_021204.5
p.G185*
c.553G>T
2 papers
NM_021204.5
p.T214insFs
c.641_642insC
1 paper
NM_021204.5
p.E9D
c.27A>C
1 paper
NM_021204.5
p.E9D
c.27A>T
1 paper
NM_021204.5
p.V12M
c.34G>A
1 paper
NM_021204.5
p.V12L
c.34G>T
1 paper
NM_021204.5
p.D16V
c.47A>T
1 paper
NM_021204.5
p.A25D
c.74C>A
1 paper
NM_021204.5
p.D29G
c.86A>G
1 paper
NM_021204.5
p.I30I
c.90T>A
1 paper
NM_021204.5
p.E36K
c.106G>A
1 paper
NM_021204.5
p.V39I
c.115G>A
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