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

20 papers

NM_000169.3

p.L294S

c.881T>C

Surrounding Variants

10 papers

NM_000169.3

p.L294*

c.881T>G

10 papers

NM_000169.3

p.L294*

c.881T>A

2 papers

NM_000169.3

p.F295fs

c.883_884fs

20 papers

NM_000169.3

p.F295C

c.884T>G

5 papers

NM_000169.3

p.P293L

c.878C>T

1 paper

NM_000169.3

p.P293H

c.878C>A

9 papers

NM_000169.3

p.P293S

c.877C>T

6 papers

NM_000169.3

p.P293A

c.877C>G

13 papers

NM_000169.3

p.P293T

c.877C>A

7 papers

NM_000169.3

p.M296L

c.886A>T

41 papers

NM_000169.3

p.M296V

c.886A>G

6 papers

NM_000169.3

p.M296L

c.886A>C