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

1–12 of 631 variants

26 papers

NM_002641.4

p.R412*

c.1234C>T

15 papers

NM_002641.4

p.P93L

c.278C>T

15 papers

NM_002641.4

p.R119W

c.355C>T

13 papers

NM_002641.4

p.R119Q

c.356G>A

11 papers

NM_002641.4

p.L344del1

c.1030_1031delAAG

10 papers

NM_002641.4

p.Y26insFs

c.76dupT

10 papers

NM_002641.4

p.R77L

c.230G>T

10 papers

NM_002641.4

p.N179Y

c.535A>T

10 papers

NM_002641.4

p.S330N

c.989G>A

9 papers

NM_002641.4

p.R19W

c.55C>T

9 papers

NM_002641.4

p.K143E

c.427A>G

8 papers

NM_002641.4

p.I206F

c.616A>T