Varaico: Literature-Extracted Genetic Variants

Gene:ENOPH1
Variant:p.I30I

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
Selected Variant
1 paper
NM_021204.5
p.I30I
c.90T>A
Surrounding Variants
1 paper
NM_021204.5
p.D29G
c.86A>G
1 paper
NM_021204.5
p.E36K
c.106G>A
1 paper
NM_021204.5
p.V39I
c.115G>A
1 paper
NM_021204.5
p.Q62fs
c.184_185fs
1 paper
NM_021204.5
p.Q62delFs
c.186delG
1 paper
NM_021204.5
p.A78P
c.232G>C
1 paper
NM_021204.5
p.L173I
c.517C>A
1 paper
NM_021204.5
p.G185R
c.553G>A
1 paper
NM_021204.5
p.G185R
c.553G>C
2 papers
NM_021204.5
p.G185*
c.553G>T
1 paper
NM_021204.5
p.K195delFs
c.584delA
1 paper
NM_021204.5
p.S203*
c.608C>A
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