Varaico: Literature-Extracted Genetic Variants

Gene:PIGL
Variant:p.L92fs

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
5 papers
NM_004278.4
p.L92fs
c.274_275fs
Surrounding Variants
5 papers
NM_004278.4
p.L92delFs
c.274delC
3 papers
NM_004278.4
p.R88C
c.262C>T
2 papers
NM_004278.4
p.E86fs
c.256_257fs
1 paper
NM_004278.4
p.G85delFs
c.254_255delGA
1 paper
NM_004278.4
p.Q84*
c.250C>T
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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."