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

26 papers

NM_000169.3

p.C94S

c.280T>A

Surrounding Variants

4 papers

NM_000169.3

p.C94R

c.280T>C

4 papers

NM_000169.3

p.C94F

c.281G>T

25 papers

NM_000169.3

p.C94S

c.281G>C

19 papers

NM_000169.3

p.C94Y

c.281G>A

9 papers

NM_000169.3

p.D93E

c.279C>G

8 papers

NM_000169.3

p.D93E

c.279C>A

9 papers

NM_000169.3

p.C94*

c.282T>A

8 papers

NM_000169.3

p.D93V

c.278A>T

5 papers

NM_000169.3

p.D93G

c.278A>G

1 paper

NM_000169.3

p.W95G

c.283T>G

2 papers

NM_000169.3

p.W95R

c.283T>C

2 papers

NM_000169.3

p.W95R

c.283T>A