Varaico: Literature-Extracted Genetic Variants

Gene:PGAP3

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
1–12 of 88 variants
10 papers
NM_033419.5
p.G92D
c.275G>A
10 papers
NM_033419.5
p.H284R
c.851A>G
10 papers
NM_033419.5
p.D305G
c.914A>G
9 papers
NM_033419.5
p.S107L
c.320C>T
9 papers
NM_033419.5
p.H284Y
c.850C>T
8 papers
NM_033419.5
p.P134insFs
c.402dupC
7 papers
NM_033419.5
p.P105R
c.314C>G
7 papers
NM_033419.5
p.L147insFs
c.440_441insC
7 papers
NM_033419.5
p.R186Splc
c.558-10G>A
7 papers
NM_033419.5
p.D273_F274delFs
c.817_820del4
6 papers
NM_033419.5
p.L147fs
c.439_440fs
6 papers
NM_033419.5
p.D282G
c.845A>G
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."