Varaico: Literature-Extracted Genetic Variants

Gene:PIGQ
Variant:p.P121_G122delFs

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.P121_G122delFs
c.363_364delTG
Surrounding Variants
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
1 paper
NM_004204.5
p.Q140*
c.418C>T
1 paper
NM_004204.5
p.R95Q
c.284G>A
1 paper
NM_004204.5
p.R150S
c.448C>A
1 paper
NM_004204.5
p.V87V
c.261C>T
1 paper
NM_004204.5
p.V87G
c.260T>G
1 paper
NM_004204.5
p.L81L
c.243G>C
1 paper
NM_004204.5
p.E72G
c.215A>G
1 paper
NM_004204.5
p.R171S
c.511C>A
1 paper
NM_004204.5
p.R70Q
c.209G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."