Varaico: Literature-Extracted Genetic Variants

Gene:MPPE1

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
1–12 of 43 variants
2 papers
NM_023075.6
p.E216D
c.648A>T
2 papers
NM_023075.6
p.E216D
c.648A>C
2 papers
NM_023075.6
p.A268P
c.802G>C
1 paper
NM_023075.6
p.I4T
c.11T>C
1 paper
NM_023075.6
p.E5insFs
c.13_14insA
1 paper
NM_023075.6
p.E5insFs
c.14_15insA
1 paper
NM_023075.6
p.F13_H14insA
c.37_41ins3
1 paper
NM_023075.6
p.E62G
c.185A>G
1 paper
NM_023075.6
p.T65A
c.193A>G
1 paper
NM_023075.6
p.H79insFs
c.237dupT
1 paper
NM_023075.6
p.E83G
c.248A>G
1 paper
NM_023075.6
p.W96*
c.287G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."