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

5 papers

NM_000169.3

p.D92G

c.275A>G

Surrounding Variants

3 papers

NM_000169.3

p.D92V

c.275A>T

1 paper

NM_000169.3

p.D92E

c.276T>G

1 paper

NM_000169.3

p.D92E

c.276T>A

17 papers

NM_000169.3

p.D92Y

c.274G>T

11 papers

NM_000169.3

p.D92H

c.274G>C

12 papers

NM_000169.3

p.D92N

c.274G>A

6 papers

NM_000169.3

p.D93Y

c.277G>T

1 paper

NM_000169.3

p.I91_D92insFs

c.273_276dup4

19 papers

NM_000169.3

p.D93N

c.277G>A

2 papers

NM_000169.3

p.I91_D92delFs

c.273_276del4

1 paper

NM_000169.3

p.I91S

c.272T>G

50 papers

NM_000169.3

p.I91T

c.272T>C