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.E50D

c.150A>C

Surrounding Variants

1 paper

NM_002641.4

p.S51C

c.151A>T

1 paper

NM_002641.4

p.E50*

c.148G>T

2 papers

NM_002641.4

p.H52Y

c.154C>T

1 paper

NM_002641.4

p.H52fs

c.154_155fs

1 paper

NM_002641.4

p.V49_E50insAC

c.145_149ins6

5 papers

NM_002641.4

p.V49M

c.145G>A

1 paper

NM_002641.4

p.H52P

c.155A>C

1 paper

NM_002641.4

p.H52delFs

c.154delG

2 papers

NM_002641.4

p.G48V

c.143G>T

2 papers

NM_002641.4

p.G48A

c.143G>C

5 papers

NM_002641.4

p.G48D

c.143G>A

2 papers

NM_002641.4

p.G48C

c.142G>T