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

3 papers

NM_000169.3

p.L310fs

c.928_929fs

Surrounding Variants

11 papers

NM_000169.3

p.L310F

c.928C>T

5 papers

NM_000169.3

p.L310V

c.928C>G

3 papers

NM_000169.3

p.A309delFs

c.927delA

3 papers

NM_000169.3

p.L310R

c.929T>G

4 papers

NM_000169.3

p.A309V

c.926C>T

1 paper

NM_000169.3

p.A309G

c.926C>G

3 papers

NM_000169.3

p.L311fs

c.931_932fs

1 paper

NM_000169.3

p.A309P

c.925G>C

5 papers

NM_000169.3

p.L311F

c.931C>T

5 papers

NM_000169.3

p.L311V

c.931C>G

2 papers

NM_000169.3

p.I303_L310del0

c.908_928del21

2 papers

NM_000169.3

p.L311insFs

c.931dupC