Varaico: Literature-Extracted Genetic Variants

Gene:PGAP3
Variant:p.L147insFs

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
7 papers
NM_033419.5
p.L147insFs
c.440_441insC
Surrounding Variants
1 paper
NM_033419.5
p.L147fs
c.439_440fs
6 papers
NM_033419.5
p.L147fs
c.439_440fs
1 paper
NM_033419.5
p.V155L
c.463G>C
1 paper
NM_033419.5
p.V155V
c.465T>C
1 paper
NM_033419.5
p.T164I
c.491C>T
3 papers
NM_033419.5
p.Y169*
c.507C>G
3 papers
NM_033419.5
p.Y169*
c.507C>A
4 papers
NM_033419.5
p.C171R
c.511T>C
1 paper
NM_033419.5
p.R186fs
c.556_557fs
1 paper
NM_001291726.2
p.V134insFs
c.402dupC
5 papers
NM_033419.5
p.R186T
c.557G>C
7 papers
NM_033419.5
p.R186Splc
c.558-10G>A
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