Varaico: Literature-Extracted Genetic Variants

Gene:PIGK
Variant:p.S329C

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
Selected Variant
1 paper
NM_005482.3
p.S329C
c.985A>T
Surrounding Variants
1 paper
NM_005482.3
p.I317V
c.949A>G
1 paper
NM_005482.3
p.V310A
c.929T>C
3 papers
NM_005482.3
p.R287H
c.860G>A
2 papers
NM_005482.3
p.R287C
c.859C>T
1 paper
NM_005482.3
p.P284L
c.851C>T
4 papers
NM_005482.3
p.C275R
c.823T>C
1 paper
NM_005482.3
p.Q273H
c.819G>T
1 paper
NM_005482.3
p.Q273H
c.819G>C
1 paper
NM_005482.3
p.M268V
c.802A>G
4 papers
NM_005482.3
p.M246K
c.737T>A
1 paper
NM_005482.3
p.P237L
c.710C>T
1 paper
NM_005482.3
p.S234_H235Splc
c.703-6C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."