Varaico: Literature-Extracted Genetic Variants

Gene:MPPE1
Variant:p.E216D

MPPE1

32 papers

Pfam Domains

Metallophosaa 70–307UCSCCalcineurin-like phosphoesterase

Gene Aliases

HGNC Name

metallophosphoesterase 1

HGNC Alias Symbol

PGAP5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_023075.6
p.E216D
c.648A>C
Surrounding Variants
2 papers
NM_023075.6
p.E216D
c.648A>T
1 paper
NM_023075.6
p.C207F
c.620G>T
1 paper
NM_023075.6
p.G203fs
c.607_608fs
1 paper
NM_023075.6
p.D202_G203insFs
c.606_607insCC
1 paper
NM_023075.6
p.D202delFs
c.605delT
1 paper
NM_023075.6
p.D202fs
c.604_605fs
1 paper
NM_023075.6
p.A198V
c.593C>T
1 paper
NM_023075.6
p.R228C
c.682C>T
1 paper
NM_023075.6
p.R232W
c.694C>T
1 paper
NM_023075.6
p.G236G
c.708G>A
1 paper
NM_023075.6
p.Q248*
c.742C>T
1 paper
NM_023075.6
p.A265T
c.793G>A
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