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

4 papers

NM_002641.4

p.G23insFs

c.68dupG

Surrounding Variants

3 papers

NM_002641.4

p.S24fs

c.70_71fs

1 paper

NM_002641.4

p.G23*

c.67G>T

1 paper

NM_002641.4

p.P22S

c.64C>T

7 papers

NM_002641.4

p.Y26fs

c.76_77fs

1 paper

NM_002641.4

p.S21G

c.61A>G

10 papers

NM_002641.4

p.Y26insFs

c.76dupT

2 papers

NM_002641.4

p.V20I

c.58G>A

1 paper

NM_002641.4

p.C28fs

c.82_83fs

2 papers

NM_002641.4

p.R19Q

c.56G>A

1 paper

NM_002641.4

p.S18_R19delFs

c.54_55delGA

1 paper

NM_002641.4

p.C28delFs

c.82delA

1 paper

NM_002641.4

p.R19fs

c.55_56fs