Varaico: Literature-Extracted Genetic Variants

GLA

2,205 papers

RefSeq Summary

This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and i...

Pfam Domains

Melibiase_2aa 39–79UCSCAlpha galactosidase A

Melibiase_2aa 39–322UCSCAlpha galactosidase A

Melibiase_2_Caa 325–411UCSCAlpha galactosidase A C-terminal beta sandwich domain

Gene Aliases

HGNC Name

galactosidase alpha

HGNC Alias Symbol

GALA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000169.3

p.F396fs

c.1186_1187fs

Surrounding Variants

1 paper

NM_000169.3

p.G395insFs

c.1185dupG

2 papers

NM_000169.3

p.G395delFs

c.1185delC

2 papers

NM_000169.3

p.K393_G395del0

c.1177_1185del9

10 papers

NM_000169.3

p.F396Y

c.1187T>A

18 papers

NM_000169.3

p.G395A

c.1184G>C

2 papers

NM_000169.3

p.G395E

c.1184G>A

2 papers

NM_000169.3

p.F396_Y397insFs

c.1188_1189insT

2 papers

NM_000169.3

p.F396delFs

c.1187delA

2 papers

NM_000169.3

p.F396delFs

c.1188delG

1 paper

NM_000169.3

p.G395R

c.1183G>C

3 papers

NM_000169.3

p.L394delFs

c.1182delT

4 papers

NM_000169.3

p.L394R

c.1181T>G