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.E120insFs

c.359dupA

Surrounding Variants

1 paper

NM_002641.4

p.E120V

c.359A>T

1 paper

NM_002641.4

p.E120A

c.359A>C

2 papers

NM_002641.4

p.E120K

c.358G>A

1 paper

NM_002641.4

p.R119fs

c.355_356fs

2 papers

NM_002641.4

p.R119P

c.356G>C

13 papers

NM_002641.4

p.R119Q

c.356G>A

1 paper

NM_002641.4

p.V122D

c.365T>A

15 papers

NM_002641.4

p.R119W

c.355C>T

1 paper

NM_002641.4

p.V122_T123insFs

c.366_367insA

1 paper

NM_002641.4

p.T123fs

c.367_368fs

7 papers

NM_002641.4

p.T123M

c.368C>T

2 papers

NM_002641.4

p.T123insFs

c.368_369insA