Varaico: Literature-Extracted Genetic Variants

Gene:PIGK
Variant:p.M246K

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
4 papers
NM_005482.3
p.M246K
c.737T>A
Surrounding Variants
1 paper
NM_005482.3
p.P237L
c.710C>T
1 paper
NM_005482.3
p.S234_H235Splc
c.703-6C>T
1 paper
NM_005482.3
p.M268V
c.802A>G
1 paper
NM_005482.3
p.S234L
c.701C>T
1 paper
NM_005482.3
p.A209S
c.625G>T
1 paper
NM_005482.3
p.C206S
c.617G>C
1 paper
NM_005482.3
p.C206S
c.616T>A
5 papers
NM_005482.3
p.D204H
c.610G>C
3 papers
NM_005482.3
p.A184V
c.551C>T
2 papers
NM_005482.3
p.A184T
c.550G>A
1 paper
NM_005482.3
p.E177D
c.531A>T
1 paper
NM_005482.3
p.E177D
c.531A>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."