Varaico: Literature-Extracted Genetic Variants

Gene:PGAP3
Variant:p.C72_M73insFs

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.C72_M73insFs
c.216_217insA
Surrounding Variants
1 paper
NM_033419.5
p.C72delFs
c.214delA
1 paper
NM_033419.5
p.E71K
c.211G>A
1 paper
NM_033419.5
p.Y70F
c.209A>T
1 paper
NM_033419.5
p.C68delFs
c.203delC
1 paper
NM_033419.5
p.V77I
c.229G>A
1 paper
NM_033419.5
p.D67V
c.200A>T
1 paper
NM_033419.5
p.R65Q
c.194G>A
1 paper
NM_033419.5
p.C64delFs
c.191delC
2 papers
NM_033419.5
p.V87M
c.259G>A
2 papers
NM_033419.5
p.Q89*
c.265C>T
1 paper
NM_033419.5
p.Q89E
c.265C>G
1 paper
NM_033419.5
p.F90L
c.268T>C
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