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

17 papers

NM_000169.3

p.S148R

c.442A>C

Surrounding Variants

1 paper

NM_000169.3

p.S148I

c.443G>T

22 papers

NM_000169.3

p.S148N

c.443G>A

1 paper

NM_000169.3

p.G147G

c.441G>A

1 paper

NM_000169.3

p.C142_G147delFs

c.424_440del17

17 papers

NM_000169.3

p.S148R

c.444T>G

17 papers

NM_000169.3

p.S148R

c.444T>A

2 papers

NM_000169.3

p.G147V

c.440G>T

11 papers

NM_000169.3

p.G147E

c.440G>A

1 paper

NM_000169.3

p.F149I

c.445T>A

1 paper

NM_000169.3

p.F149fs

c.445_446fs

11 papers

NM_000169.3

p.G147R

c.439G>C

11 papers

NM_000169.3

p.G147R

c.439G>A