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.I455insFs

c.1363_1364ins4

Surrounding Variants

3 papers

NM_002641.4

p.D452V

c.1355A>T

3 papers

NM_002641.4

p.D452Y

c.1354G>T

6 papers

NM_002641.4

p.I451T

c.1352T>C

1 paper

NM_002641.4

p.P460S

c.1378C>T

1 paper

NM_002641.4

p.I450fs

c.1348_1349fs

1 paper

NM_002641.4

p.S449insFs

c.1347dupT

1 paper

NM_002641.4

p.P447_S449delFs

c.1339_1346del8

1 paper

NM_002641.4

p.P447_D448del2

c.1339_1343del6

1 paper

NM_002641.4

p.R461Q

c.1382G>A

1 paper

NM_002641.4

p.G462D

c.1385G>A

1 paper

NM_002641.4

p.L442_T446del5

c.1324_1337del15

2 papers

NM_002641.4

p.P447fs

c.1339_1340fs