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

5 papers

NM_000169.3

p.F229L

c.685T>C

Surrounding Variants

11 papers

NM_000169.3

p.F229V

c.685T>G

1 paper

NM_000169.3

p.N228insFs

c.683dupA

6 papers

NM_000169.3

p.F229L

c.687T>G

5 papers

NM_000169.3

p.F229L

c.687T>A

9 papers

NM_000169.3

p.N228S

c.683A>G

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

3 papers

NM_000169.3

p.N228H

c.682A>C

2 papers

NM_000169.3

p.R227L

c.680G>T

15 papers

NM_000169.3

p.R227P

c.680G>C

109 papers

NM_000169.3

p.R227Q

c.680G>A