Varaico: Literature-Extracted Genetic Variants

Gene:PIGQ
Variant:p.A522T

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.A522T
c.1564G>A
Surrounding Variants
1 paper
NM_004204.5
p.G523S
c.1567G>A
1 paper
NM_004204.5
p.G523D
c.1568G>A
1 paper
NM_004204.5
p.L526_R527delFs
c.1578_1579delCC
1 paper
NM_004204.5
p.R516S
c.1546C>A
1 paper
NM_004204.5
p.V513insFs
c.1537_1538insGT
1 paper
NM_004204.5
p.V513fs
c.1537_1538fs
1 paper
NM_004204.5
p.N533K
c.1599C>A
2 papers
NM_004204.5
p.Y537delFs
c.1611delC
1 paper
NM_004204.5
p.Y544insFs
c.1631dupA
1 paper
NM_004204.5
p.Y544fs
c.1630_1631fs
1 paper
NM_148920.4
p.P526_Q527delFs
c.1578_1579delCC
1 paper
NM_148920.4
p.Q527fs
c.1579_1580fs
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