Varaico: Literature-Extracted Genetic Variants

Gene:PIGL
Variant:p.W20*

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
2 papers
NM_004278.4
p.W20*
c.59G>A
Surrounding Variants
3 papers
NM_004278.4
p.W20*
c.60G>A
1 paper
NM_004278.4
p.W22L
c.65G>T
2 papers
NM_004278.4
p.W16*
c.48G>A
2 papers
NM_004278.4
p.W16*
c.47G>A
1 paper
NM_004278.4
p.E26insFs
c.76dupG
2 papers
NM_004278.4
p.A12_W16delFs
c.36_48del13
1 paper
NM_004278.4
p.A10G
c.29C>G
1 paper
NM_004278.4
p.Q33R
c.98A>G
2 papers
NM_004278.4
p.R36_A48del13
c.106_143del39
2 papers
NM_004278.4
p.D52N
c.154G>A
1 paper
NM_004278.4
p.P59S
c.175C>T
1 paper
NM_004278.4
p.L73M
c.217C>A
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