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.S351*

c.1052C>A

Surrounding Variants

2 papers

NM_002641.4

p.S351*

c.1052C>G

1 paper

NM_002641.4

p.P350_S351delFs

c.1049_1053del5

1 paper

NM_002641.4

p.V352insFs

c.1054dupG

1 paper

NM_002641.4

p.P350fs

c.1048_1049fs

1 paper

NM_002641.4

p.E349G

c.1046A>G

1 paper

NM_002641.4

p.E349K

c.1045G>A

1 paper

NM_002641.4

p.L347delFs

c.1040_1041delTA

1 paper

NM_002641.4

p.S354Y

c.1061C>A

1 paper

NM_002641.4

p.C348fs

c.1042_1043fs

6 papers

NM_002641.4

p.L355S

c.1064T>C

1 paper

NM_002641.4

p.L347fs

c.1039_1040fs

1 paper

NM_002641.4

p.C356fs

c.1066_1067fs