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

4 papers

NM_000169.3

p.D155E

c.465T>A

Surrounding Variants

4 papers

NM_000169.3

p.D155E

c.465T>G

38 papers

NM_000169.3

p.A156T

c.466G>A

19 papers

NM_000169.3

p.D155H

c.463G>C

32 papers

NM_000169.3

p.A156V

c.467C>T

14 papers

NM_000169.3

p.A156D

c.467C>A

1 paper

NM_000169.3

p.A156delFs

c.466delC

1 paper

NM_000169.3

p.I154I

c.462T>C

1 paper

NM_000169.3

p.A156A

c.468C>A

1 paper

NM_000169.3

p.I154insFs

c.461_462insCA

2 papers

NM_000169.3

p.I154T

c.461T>C

1 paper

NM_000169.3

p.I154delFs

c.460delT

13 papers

NM_000169.3

p.Q157*

c.469C>T