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

1 paper

NM_000169.3

p.D233V

c.698A>T

Surrounding Variants

1 paper

NM_000169.3

p.D233Y

c.697G>T

6 papers

NM_000169.3

p.D234Y

c.700G>T

1 paper

NM_000169.3

p.D234N

c.700G>A

1 paper

NM_000169.3

p.I232S

c.695T>G

24 papers

NM_000169.3

p.I232T

c.695T>C

5 papers

NM_000169.3

p.D234E

c.702T>G

1 paper

NM_000169.3

p.D234D

c.702T>C

5 papers

NM_000169.3

p.D234E

c.702T>A

1 paper

NM_000169.3

p.A230_D231del2

c.688_692del6

1 paper

NM_000169.3

p.S235_W236insGG

c.703_707ins6

1 paper

NM_000169.3

p.S235P

c.703T>C

5 papers

NM_000169.3

p.D234del1

c.700_702delATC