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

1 paper

NM_002641.4

p.V193A

c.578T>C

Surrounding Variants

2 papers

NM_002641.4

p.V193fs

c.577_578fs

1 paper

NM_002641.4

p.V193fs

c.577_578fs

2 papers

NM_002641.4

p.T192fs

c.574_575fs

2 papers

NM_002641.4

p.L194insFs

c.580_581insC

1 paper

NM_002641.4

p.T192P

c.574A>C

2 papers

NM_002641.4

p.V193_L194delFs

c.577_581del5

1 paper

NM_002641.4

p.L194del1

c.580_581delTAG

1 paper

NM_002641.4

p.A196T

c.586G>A

1 paper

NM_002641.4

p.A196fs

c.586_587fs

1 paper

NM_002641.4

p.E190*

c.568G>T

1 paper

NM_002641.4

p.A196delFs

c.587_588delTG

3 papers

NM_002641.4

p.K189E

c.565A>G