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.V403fs

c.1207_1208fs

Surrounding Variants

1 paper

NM_002641.4

p.S402P

c.1204T>C

1 paper

NM_002641.4

p.A405V

c.1214C>T

1 paper

NM_002641.4

p.D399Y

c.1195G>T

2 papers

NM_002641.4

p.Y398*

c.1194T>G

2 papers

NM_002641.4

p.Y398*

c.1194T>A

1 paper

NM_002641.4

p.P408_M409insFs

c.1224_1225insTA

1 paper

NM_002641.4

p.V397I

c.1189G>A

1 paper

NM_002641.4

p.M409K

c.1226T>A

1 paper

NM_002641.4

p.K396_V397Splc

c.1189-1G>C

1 paper

NM_002641.4

p.K396_V397Splc

c.1189-1G>A

1 paper

NM_002641.4

p.K396_V397Splc

c.1189-2A>G

1 paper

NM_002641.4

p.D410G

c.1229A>G