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

3 papers

NM_002641.4

p.L83P

c.248T>C

Surrounding Variants

1 paper

NM_002641.4

p.L83delFs

c.247delG

2 papers

NM_002641.4

p.L83V

c.247C>G

1 paper

NM_002641.4

p.L83I

c.247C>A

1 paper

NM_002641.4

p.L83fs

c.247_248fs

1 paper

NM_002641.4

p.T84I

c.251C>T

1 paper

NM_002641.4

p.T84T

c.252C>G

1 paper

NM_002641.4

p.R81delFs

c.242delC

2 papers

NM_002641.4

p.R81P

c.242G>C

5 papers

NM_002641.4

p.R81H

c.242G>A

4 papers

NM_002641.4

p.R81C

c.241C>T

3 papers

NM_002641.4

p.R81S

c.241C>A

2 papers

NM_002641.4

p.I80I

c.240C>T