Varaico: Literature-Extracted Genetic Variants

Gene:PIGQ
Variant:p.Q342H

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.Q342H
c.1026G>T
Surrounding Variants
1 paper
NM_004204.5
p.Q342H
c.1026G>C
1 paper
NM_004204.5
p.R346H
c.1037G>A
1 paper
NM_004204.5
p.R338G
c.1012C>G
1 paper
NM_004204.5
p.L349delFs
c.1047delC
2 papers
NM_004204.5
p.L323delFs
c.968_969delTG
4 papers
NM_004204.5
p.L323fs
c.967_968fs
1 paper
NM_004204.5
p.S363_P364del2
c.1087_1091del6
1 paper
NM_004204.5
p.P364insFs
c.1092dupC
1 paper
NM_004204.5
p.H372Q
c.1116C>A
1 paper
NM_004204.5
p.H372Q
c.1116C>G
2 papers
NM_004204.5
p.V373M
c.1117G>A
1 paper
NM_004204.5
p.A377_D390del0
c.1130_1168del39
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."