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.G146insFs

c.437dupG

Surrounding Variants

1 paper

NM_002641.4

p.L147fs

c.439_440fs

1 paper

NM_002641.4

p.G146fs

c.436_437fs

1 paper

NM_002641.4

p.Q148_T149delFs

c.442_446del5

1 paper

NM_002641.4

p.V150G

c.449T>G

1 paper

NM_002641.4

p.T149_V150delFs

c.447_448delCT

1 paper

NM_002641.4

p.K143M

c.428A>T

1 paper

NM_002641.4

p.F151fs

c.451_452fs

9 papers

NM_002641.4

p.K143E

c.427A>G

1 paper

NM_002641.4

p.K143Q

c.427A>C

1 paper

NM_002641.4

p.F151insFs

c.452_453insA

1 paper

NM_002641.4

p.F151fs

c.451_452fs

7 papers

NM_002641.4

p.A142T

c.424G>A