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.V339G

c.1016T>G

Surrounding Variants

3 papers

NM_002641.4

p.E338*

c.1012G>T

1 paper

NM_002641.4

p.P341fs

c.1021_1022fs

1 paper

NM_002641.4

p.P341Q

c.1022C>A

1 paper

NM_002641.4

p.P337fs

c.1009_1010fs

1 paper

NM_002641.4

p.I336delFs

c.1007_1008delAA

1 paper

NM_002641.4

p.L340_P341delFs

c.1020_1023del4

1 paper

NM_002641.4

p.G335Fs

c.1003delinsGAFs

1 paper

NM_002641.4

p.G335E

c.1004G>A

1 paper

NM_002641.4

p.G335R

c.1003G>C

1 paper

NM_002641.4

p.G335R

c.1003G>A

1 paper

NM_002641.4

p.G335fs

c.1003_1004fs

1 paper

NM_002641.4

p.L344F

c.1030C>T