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.S297_N298del2

c.889_893del6

Surrounding Variants

2 papers

NM_000169.3

p.D299H

c.895G>C

12 papers

NM_000169.3

p.N298K

c.894T>G

12 papers

NM_000169.3

p.N298K

c.894T>A

3 papers

NM_000169.3

p.D299V

c.896A>T

4 papers

NM_000169.3

p.D299G

c.896A>G

1 paper

NM_000169.3

p.D299A

c.896A>C

8 papers

NM_000169.3

p.D299E

c.897C>G

8 papers

NM_000169.3

p.D299E

c.897C>A

8 papers

NM_000169.3

p.N298S

c.893A>G

5 papers

NM_000169.3

p.N298insFs

c.893_894insG

3 papers

NM_000169.3

p.M296_S297del2

c.886_890del6

1 paper

NM_000169.3

p.N298fs

c.892_893fs