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

8 papers

NM_000169.3

p.L311R

c.932T>G

Surrounding Variants

2 papers

NM_000169.3

p.L311insFs

c.931dupC

3 papers

NM_000169.3

p.L311P

c.932T>C

2 papers

NM_000169.3

p.L310delFs

c.930delG

3 papers

NM_000169.3

p.L311fs

c.931_932fs

5 papers

NM_000169.3

p.L311F

c.931C>T

5 papers

NM_000169.3

p.L311V

c.931C>G

2 papers

NM_000169.3

p.I303_L310del0

c.908_928del21

5 papers

NM_000169.3

p.Q312*

c.934C>T

3 papers

NM_000169.3

p.L310R

c.929T>G

13 papers

NM_000169.3

p.Q312R

c.935A>G

4 papers

NM_000169.3

p.Q312H

c.936G>T

4 papers

NM_000169.3

p.Q312H

c.936G>C