Varaico: Literature-Extracted Genetic Variants

Gene:PIGS
Variant:p.P329R

PIGS

67 papers

RefSeq Summary

This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the ce...

Pfam Domains

PIG-Saa 22–547UCSCPhosphatidylinositol-glycan biosynthesis class S protein

Gene Aliases

HGNC Name

phosphatidylinositol glycan anchor biosynthesis class S

HGNC Alias Symbol

PIG-S

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_033198.4
p.P329R
c.986C>G
Surrounding Variants
1 paper
NM_033198.4
p.L331delFs
c.993delA
2 papers
NM_033198.4
p.P335L
c.1004C>T
1 paper
NM_033198.4
p.G343S
c.1027G>A
1 paper
NM_033198.4
p.G312Splc
c.935-6C>G
2 papers
NM_033198.4
p.G357D
c.1070G>A
1 paper
NM_033198.4
p.N370S
c.1109A>G
2 papers
NM_033198.4
p.D381_V388ins2
c.1141_1164dup24
1 paper
NM_033198.4
p.A391S
c.1171G>T
1 paper
NM_033198.4
p.L311R
c.932T>G
6 papers
NM_033198.4
p.E308G
c.923A>G
1 paper
NM_033198.4
p.N305S
c.914A>G
1 paper
NM_033198.4
p.R425W
c.1273C>T
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