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

15 papers

NM_000169.3

p.T41S

c.121A>T

Surrounding Variants

11 papers

NM_000169.3

p.T41I

c.122C>T

3 papers

NM_000169.3

p.T41S

c.122C>G

1 paper

NM_000169.3

p.T41N

c.122C>A

14 papers

NM_000169.3

p.P40L

c.119C>T

2 papers

NM_000169.3

p.T41T

c.123C>T

1 paper

NM_000169.3

p.P40R

c.119C>G

6 papers

NM_000169.3

p.P40H

c.119C>A

2 papers

NM_000169.3

p.M42fs

c.124_125fs

34 papers

NM_000169.3

p.P40S

c.118C>T

3 papers

NM_000169.3

p.P40A

c.118C>G

12 papers

NM_000169.3

p.M42L

c.124A>T

45 papers

NM_000169.3

p.M42V

c.124A>G