Varaico: Literature-Extracted Genetic Variants

Gene:PIGK
Variant:p.R133Q

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.R133Q
c.398G>A
Surrounding Variants
1 paper
NM_005482.3
p.E129D
c.387G>T
1 paper
NM_005482.3
p.E129D
c.387G>C
1 paper
NM_005482.3
p.R145L
c.434G>T
1 paper
NM_005482.3
p.R154S
c.462A>T
4 papers
NM_005482.3
p.Y160S
c.479A>C
1 paper
NM_005482.3
p.M161L
c.481A>T
1 paper
NM_005482.3
p.M161V
c.481A>G
1 paper
NM_005482.3
p.M161L
c.481A>C
1 paper
NM_005482.3
p.Y124Y
c.372C>T
1 paper
NM_005482.3
p.T101A
c.301A>G
1 paper
NM_005482.3
p.C92*
c.276T>A
1 paper
NM_005482.3
p.C92S
c.275G>C
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."