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.R77Q

c.230G>A

Surrounding Variants

10 papers

NM_002641.4

p.R77L

c.230G>T

1 paper

NM_002641.4

p.N76_R77delFs

c.228_229delGA

2 papers

NM_002641.4

p.R77*

c.229C>T

2 papers

NM_002641.4

p.R77G

c.229C>G

1 paper

NM_002641.4

p.K78I

c.233A>T

1 paper

NM_002641.4

p.K78fs

c.232_233fs

1 paper

NM_002641.4

p.G79S

c.235G>A

2 papers

NM_002641.4

p.K78delFs

c.234delT

1 paper

NM_002641.4

p.G79fs

c.235_236fs

2 papers

NM_002641.4

p.G79V

c.236G>T

1 paper

NM_002641.4

p.G79fs

c.235_236fs

1 paper

NM_002641.4

p.I80F

c.238A>T