Varaico: Literature-Extracted Genetic Variants

Gene:PGAP3
Variant:p.D305G

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
10 papers
NM_033419.5
p.D305G
c.914A>G
Surrounding Variants
2 papers
NM_033419.5
p.Y308*
c.924C>G
2 papers
NM_033419.5
p.Y308*
c.924C>A
2 papers
NM_033419.5
p.S300Splc
c.900-1G>A
6 papers
NM_033419.5
p.W287C
c.861G>T
4 papers
NM_033419.5
p.W287C
c.861G>C
10 papers
NM_033419.5
p.H284R
c.851A>G
9 papers
NM_033419.5
p.H284Y
c.850C>T
6 papers
NM_033419.5
p.D282G
c.845A>G
4 papers
NM_033419.5
p.L281P
c.842T>C
4 papers
NM_033419.5
p.P276L
c.827C>T
7 papers
NM_033419.5
p.D273_F274delFs
c.817_820del4
3 papers
NM_033419.5
p.D273fs
c.817_818fs
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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."