Varaico: Literature-Extracted Genetic Variants

Gene:PIGQ
Variant:p.G449R

PIGQ

76 papers

RefSeq Summary

This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell su...

Pfam Domains

Gpi1aa 247–511UCSCN-acetylglucosaminyl transferase component (Gpi1)

Gene Aliases

HGNC Name

phosphatidylinositol glycan anchor biosynthesis class Q

HGNC Alias Symbols

hGPI1; GPI1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004204.5
p.G449R
c.1345G>A
Surrounding Variants
2 papers
NM_004204.5
p.G449R
c.1345G>C
1 paper
NM_004204.5
p.L457R
c.1370T>G
1 paper
NM_004204.5
p.L460L
c.1380G>A
1 paper
NM_004204.5
p.R474Q
c.1421G>A
1 paper
NM_004204.5
p.V478V
c.1434C>T
3 papers
NM_004204.5
p.R502Q
c.1505G>A
1 paper
NM_004204.5
p.D437A
c.1310A>C
1 paper
NM_004204.5
p.W429*
c.1286G>A
1 paper
NM_004204.5
p.R425L
c.1274G>T
1 paper
NM_004204.5
p.L412L
c.1234C>T
1 paper
NM_004204.5
p.Y403Y
c.1209C>T
6 papers
NM_004204.5
p.Y400del1
c.1198_1199delTAC
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