Varaico: Literature-Extracted Genetic Variants

Gene:PIGS
Variant:p.A462T

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
1 paper
NM_033198.4
p.A462T
c.1384G>A
Surrounding Variants
1 paper
NM_033198.4
p.T439_K451delFs
c.1316_1352del37
1 paper
NM_033198.4
p.T439_K451delins
c.1316_1352delinsGGTTGCT
2 papers
NM_033198.4
p.T437I
c.1310C>T
1 paper
NM_033198.4
p.R430W
c.1288C>T
1 paper
NM_033198.4
p.R425W
c.1273C>T
1 paper
NM_033198.4
p.A490T
c.1468G>A
1 paper
NM_033198.4
p.A520V
c.1559C>T
1 paper
NM_033198.4
p.T544S
c.1630A>T
1 paper
NM_033198.4
p.T544S
c.1631C>G
1 paper
NM_033198.4
p.A391S
c.1171G>T
2 papers
NM_033198.4
p.D381_V388ins2
c.1141_1164dup24
1 paper
NM_033198.4
p.N370S
c.1109A>G
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