Varaico: Literature-Extracted Genetic Variants

Gene:PIGK

PIGK

55 papers

RefSeq Summary

This gene encodes a member of the cysteine protease family C13 that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and ...

Pfam Domains

Peptidase_C13aa 45–306UCSCPeptidase C13 family

Gene Aliases

HGNC Name

phosphatidylinositol glycan anchor biosynthesis class K

HGNC Alias Symbols

hGPI8; GPI8; PIG-K

Papers
RefSeq ID
Protein change
DNA change
1–12 of 63 variants
5 papers
NM_005482.3
p.D88N
c.262G>A
5 papers
NM_005482.3
p.D204H
c.610G>C
4 papers
NM_005482.3
p.L86P
c.257T>C
4 papers
NM_005482.3
p.Y160S
c.479A>C
4 papers
NM_005482.3
p.M246K
c.737T>A
4 papers
NM_005482.3
p.C275R
c.823T>C
3 papers
NM_005482.3
p.I30fs
c.88_89fs
3 papers
NM_005482.3
p.H29insFs
c.87dupT
3 papers
NM_005482.3
p.Q33*
c.97C>T
3 papers
NM_005482.3
p.A87V
c.260C>T
3 papers
NM_005482.3
p.A184V
c.551C>T
3 papers
NM_005482.3
p.R287H
c.860G>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."