Varaico: Literature-Extracted Genetic Variants

Gene:PIGQ
Variant:p.R253P

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.R253P
c.758G>C
Surrounding Variants
1 paper
NM_004204.5
p.R251R
c.753G>A
1 paper
NM_004204.5
p.A270A
c.810C>T
1 paper
NM_004204.5
p.V231M
c.691G>A
5 papers
NM_004204.5
p.R230Splc
c.690-2A>G
2 papers
NM_004204.5
p.R230Splc
c.690-5C>G
1 paper
NM_004204.5
p.N277K
c.831C>A
1 paper
NM_004204.5
p.N277K
c.831C>G
1 paper
NM_004204.5
p.T278M
c.833C>T
1 paper
NM_004204.5
p.L283L
c.847C>T
1 paper
NM_004204.5
p.L309V
c.925C>G
4 papers
NM_004204.5
p.D314_H315Splc
c.942+1G>A
1 paper
NM_004204.5
p.S221*
c.662C>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."