Varaico: Literature-Extracted Genetic Variants

Gene:PIGP

PIGP

19 papers

RefSeq Summary

This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor protein...

Pfam Domains

PIG-Paa 35–148UCSCPIG-P

Gene Aliases

HGNC Name

phosphatidylinositol glycan anchor biosynthesis class P

HGNC Previous Symbol

DSCR5

Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
5 papers
NM_153682.3
p.K128delFs
c.384delT
5 papers
NM_153682.3
p.E129fs
c.385_386fs
4 papers
NM_153681.2
p.M25T
c.74T>C
3 papers
NM_153681.2
p.M1T
c.2T>C
3 papers
NM_153682.3
p.M1T
c.2T>C
3 papers
NM_153682.3
p.F25S
c.74T>C
3 papers
NM_153681.2
p.Q128delFs
c.384delT
3 papers
NM_153681.2
p.E129fs
c.385_386fs
3 papers
NM_153681.2
p.K152delFs
c.456delT
2 papers
NM_153681.2
p.E153fs
c.457_458fs
1 paper
NM_153682.3
p.E3D
c.9A>T
1 paper
NM_153682.3
p.I14T
c.41T>C
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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."