Varaico: Literature-Extracted Genetic Variants

Gene:PIGK
Variant:p.Q33*

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
3 papers
NM_005482.3
p.Q33*
c.97C>T
Surrounding Variants
2 papers
NM_005482.3
p.E31_D32Splc
c.94-1G>C
2 papers
NM_005482.3
p.S53F
c.158C>T
1 paper
NM_005482.3
p.R60*
c.178C>T
1 paper
NM_005482.3
p.G76D
c.227G>A
1 paper
NM_005482.3
p.D79E
c.237C>G
1 paper
NM_005482.3
p.D79E
c.237C>A
1 paper
NM_005482.3
p.E31_D32Splc
c.93+13C>T
1 paper
NM_005482.3
p.E31fs
c.91_92fs
1 paper
NM_005482.3
p.I30fs
c.88_89fs
3 papers
NM_005482.3
p.I30fs
c.88_89fs
3 papers
NM_005482.3
p.H29insFs
c.87dupT
1 paper
NM_005482.3
p.L20_H29delFs
c.58_85del28
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