Varaico: Literature-Extracted Genetic Variants

PIGA

294 papers

RefSeq Summary

This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glyco...

Pfam Domains

PIGAaa 72–161UCSCPIGA (GPI anchor biosynthesis)

Glycos_transf_1aa 213–368UCSCGlycosyl transferases group 1

Gene Aliases

HGNC Name

phosphatidylinositol glycan anchor biosynthesis class A

HGNC Alias Symbols

GPI3; PIG-A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002641.4

p.C183*

c.549T>A

Surrounding Variants

3 papers

NM_002641.4

p.C183F

c.548G>T

2 papers

NM_002641.4

p.C183Y

c.548G>A

1 paper

NM_002641.4

p.V184delFs

c.551delA

1 paper

NM_002641.4

p.S185Y

c.554C>A

1 paper

NM_002641.4

p.I181S

c.542T>G

1 paper

NM_002641.4

p.Y186*

c.558T>G

1 paper

NM_002641.4

p.Y186*

c.558T>A

1 paper

NM_002641.4

p.H180L

c.539A>T

1 paper

NM_002641.4

p.N179delFs

c.536delT

2 papers

NM_002641.4

p.S188R

c.562A>C

1 paper

NM_002641.4

p.Y186_S188del0

c.557_562del6

1 paper

NM_002641.4

p.N179fs

c.535_536fs