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.L344delFs

c.1030delG

Surrounding Variants

3 papers

NM_002641.4

p.L344P

c.1031T>C

1 paper

NM_002641.4

p.L344F

c.1030C>T

11 papers

NM_002641.4

p.L344del1

c.1030_1031delAAG

NM_020473.3

p.L110del1

c.1030_1032delAAG

1 paper

NM_002641.4

p.P341_L344del0

c.1021_1032del12

1 paper

NM_002641.4

p.L340_P341delFs

c.1020_1023del4

1 paper

NM_002641.4

p.L347fs

c.1039_1040fs

1 paper

NM_002641.4

p.P341Q

c.1022C>A

1 paper

NM_002641.4

p.P341fs

c.1021_1022fs

1 paper

NM_002641.4

p.C348fs

c.1042_1043fs

1 paper

NM_002641.4

p.L347delFs

c.1040_1041delTA

1 paper

NM_002641.4

p.E349K

c.1045G>A

1 paper

NM_002641.4

p.V339G

c.1016T>G