Varaico: Literature-Extracted Genetic Variants

Gene:MPPE1
Variant:p.A131delFs

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
1 paper
NM_023075.6
p.A131delFs
c.392_393delGG
Surrounding Variants
1 paper
NM_023075.6
p.R138W
c.412C>T
1 paper
NM_023075.6
p.R138Q
c.413G>A
1 paper
NM_023075.6
p.L151V
c.451C>G
1 paper
NM_023075.6
p.G156R
c.466G>A
1 paper
NM_023075.6
p.F174delFs
c.522delA
1 paper
NM_023075.6
p.A198V
c.593C>T
1 paper
NM_023075.6
p.D202fs
c.604_605fs
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.G203fs
c.607_608fs
1 paper
NM_023075.6
p.C207F
c.620G>T
2 papers
NM_023075.6
p.E216D
c.648A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."