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.L439del1

c.1315_1316delGAG

Surrounding Variants

1 paper

NM_002641.4

p.L439P

c.1316T>C

1 paper

NM_002641.4

p.F438del1

c.1312_1313delGAA

1 paper

NM_002641.4

p.F441fs

c.1321_1322fs

1 paper

NM_002641.4

p.F441delFs

c.1322delA

1 paper

NM_002641.4

p.L437delFs

c.1309delG

1 paper

NM_002641.4

p.L437fs

c.1309_1310fs

1 paper

NM_002641.4

p.R443*

c.1327A>T

1 paper

NM_002641.4

p.F436delFs

c.1306_1307delAA

1 paper

NM_002641.4

p.F434_F436delFs

c.1302_1306del5

1 paper

NM_002641.4

p.F436fs

c.1306_1307fs

3 papers

NM_002641.4

p.W444*

c.1331G>A

2 papers

NM_002641.4

p.W444*

c.1332G>A