Varaico: Literature-Extracted Genetic Variants

Gene:PIGQ
Variant:p.P25P

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.P25P
c.75G>A
Surrounding Variants
1 paper
NM_004204.5
p.A30_V35delFs
c.89_104del16
1 paper
NM_004204.5
p.V31fs
c.91_92fs
4 papers
NM_004204.5
p.G17R
c.49G>A
4 papers
NM_004204.5
p.G17R
c.49G>C
1 paper
NM_004204.5
p.V35F
c.103G>T
3 papers
NM_004204.5
p.T14A
c.40A>G
1 paper
NM_004204.5
p.V52M
c.154G>A
1 paper
NM_004204.5
p.A55P
c.163G>C
1 paper
NM_004204.5
p.V62insFs
c.185_186insGT
1 paper
NM_004204.5
p.V62L
c.184G>C
1 paper
NM_004204.5
p.V62L
c.184G>T
1 paper
NM_004204.5
p.R70Q
c.209G>A
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