Varaico: Literature-Extracted Genetic Variants

Gene:PIGQ
Variant:p.R207Q

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
1 paper
NM_004204.5
p.R207Q
c.620G>A
Surrounding Variants
3 papers
NM_004204.5
p.R207*
c.619C>T
1 paper
NM_004204.5
p.A198fs
c.592_593fs
1 paper
NM_004204.5
p.S221*
c.662C>A
1 paper
NM_004204.5
p.P185_V186insGT
c.553_557ins6
1 paper
NM_004204.5
p.R180C
c.538C>T
1 paper
NM_004204.5
p.R171S
c.511C>A
1 paper
NM_004204.5
p.R150S
c.448C>A
1 paper
NM_004204.5
p.Q140*
c.418C>T
1 paper
NM_004204.5
p.P121_G122delFs
c.363_364delTG
1 paper
NM_004204.5
p.A117V
c.350C>T
2 papers
NM_004204.5
p.E108K
c.322G>A
1 paper
NM_004204.5
p.C107Fs
c.319delinsCAFs
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