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.I417fs

c.1249_1250fs

Surrounding Variants

1 paper

NM_002641.4

p.C420R

c.1258T>C

1 paper

NM_002641.4

p.D414_H419del6

c.1240_1256del18

1 paper

NM_002641.4

p.C420C

c.1260C>T

2 papers

NM_002641.4

p.C420*

c.1260C>A

3 papers

NM_002641.4

p.G421R

c.1261G>C

1 paper

NM_002641.4

p.L413fs

c.1237_1238fs

1 paper

NM_002641.4

p.L413delFs

c.1238delA

1 paper

NM_002641.4

p.L413Q

c.1238T>A

1 paper

NM_002641.4

p.P422fs

c.1264_1265fs

1 paper

NM_002641.4

p.P422delFs

c.1265delG

1 paper

NM_002641.4

p.K411_R412insFs

c.1233_1234dupAC

26 papers

NM_002641.4

p.R412*

c.1234C>T