Varaico: Literature-Extracted Genetic Variants

Gene:PIGQ
Variant:p.R538fs

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_148920.4
p.R538fs
c.1612_1613fs
Surrounding Variants
1 paper
NM_004204.5
p.G558fs
c.1672_1673fs
3 papers
NM_148920.4
p.G537delFs
c.1611delG
NM_004204.5
p.W557delFs
c.1670delG
1 paper
NM_148920.4
p.Q527fs
c.1579_1580fs
1 paper
NM_148920.4
p.P526_Q527delFs
c.1578_1579delCC
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.G557delFs
c.1670delG
1 paper
NM_148920.4
p.G557fs
c.1669_1670fs
2 papers
NM_004204.5
p.Y537delFs
c.1611delC
1 paper
NM_004204.5
p.N533K
c.1599C>A
1 paper
NM_148920.4
p.W634*
c.1901G>A
1 paper
NM_148920.4
p.W634*
c.1902G>A
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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."