Varaico: Literature-Extracted Genetic Variants

Gene:PIGL
Variant:p.L167P

PIGL

52 papers

RefSeq Summary

This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). St...

Pfam Domains

PIG-Laa 44–168UCSCGlcNAc-PI de-N-acetylase

Gene Aliases

HGNC Name

phosphatidylinositol glycan anchor biosynthesis class L

HGNC Alias Symbol

PIG-L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
15 papers
NM_004278.4
p.L167P
c.500T>C
Surrounding Variants
1 paper
NM_004278.4
p.A166fs
c.496_497fs
1 paper
NM_004278.4
p.R165S
c.495G>C
1 paper
NM_004278.4
p.S169*
c.506C>A
1 paper
NM_004278.4
p.S169*
c.506C>G
1 paper
NM_004278.4
p.P174L
c.521C>T
1 paper
NM_004278.4
p.L180F
c.538C>T
1 paper
NM_004278.4
p.L188L
c.562C>T
1 paper
NM_004278.4
p.I192I
c.576C>T
1 paper
NM_004278.4
p.V207F
c.619G>T
6 papers
NM_004278.4
p.Q218*
c.652C>T
1 paper
NM_004278.4
p.K220_K221Splc
c.660+1G>T
1 paper
NM_004278.4
p.R165S
c.495G>C
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