Varaico: Literature-Extracted Genetic Variants

Gene:PGAP3
Variant:p.V140E

PGAP3

107 papers

RefSeq Summary

This gene encodes a glycosylphosphatidylinositol (GPI)-specific phospholipase that primarily localizes to the Golgi apparatus. This ubiquitously expressed gene is predicted to encode a seven-transmemb...

Pfam Domains

Per1aa 54–147UCSCPer1-like family

Gene Aliases

HGNC Name

post-GPI attachment to proteins phospholipase 3

HGNC Previous Symbol

PERLD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033419.5
p.V140E
c.419T>A
Surrounding Variants
5 papers
NM_033419.5
p.A141G
c.422C>G
1 paper
NM_033419.5
p.M135fs
c.403_404fs
1 paper
NM_033419.5
p.M135T
c.404T>C
5 papers
NM_033419.5
p.M135fs
c.403_404fs
8 papers
NM_033419.5
p.P134insFs
c.402dupC
1 paper
NM_033419.5
p.S133F
c.398C>T
1 paper
NM_033419.5
p.V129V
c.387G>T
1 paper
NM_033419.5
p.V129M
c.385G>A
1 paper
NM_033419.5
p.R126C
c.376C>T
2 papers
NM_033419.5
p.S111L
c.332C>T
1 paper
NM_033419.5
p.A108V
c.323C>T
9 papers
NM_033419.5
p.S107L
c.320C>T
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