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

12 papers

NM_000169.3

p.D231G

c.692A>G

Surrounding Variants

10 papers

NM_000169.3

p.D231V

c.692A>T

1 paper

NM_000169.3

p.A230del1

c.688_689delAGC

2 papers

NM_000169.3

p.D231Y

c.691G>T

21 papers

NM_000169.3

p.D231N

c.691G>A

1 paper

NM_000169.3

p.A230_D231del2

c.688_692del6

1 paper

NM_000169.3

p.I232S

c.695T>G

24 papers

NM_000169.3

p.I232T

c.695T>C

1 paper

NM_000169.3

p.A230P

c.688G>C

17 papers

NM_000169.3

p.A230T

c.688G>A

1 paper

NM_000169.3

p.R227_F229del3

c.679_686del9

6 papers

NM_000169.3

p.F229L

c.687T>G

5 papers

NM_000169.3

p.F229L

c.687T>A