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

26 papers

NM_000169.3

p.I198T

c.593T>C

Surrounding Variants

18 papers

NM_000169.3

p.V199M

c.595G>A

1 paper

NM_000169.3

p.V199fs

c.595_596fs

1 paper

NM_000169.3

p.S197delFs

c.590delC

4 papers

NM_000169.3

p.V199insFs

c.595_596insG

2 papers

NM_000169.3

p.V199G

c.596T>G

6 papers

NM_000169.3

p.V199A

c.596T>C

1 paper

NM_000169.3

p.S197N

c.590G>A

1 paper

NM_000169.3

p.V199delFs

c.596delA

2 papers

NM_000169.3

p.R196S

c.588A>T

2 papers

NM_000169.3

p.R196S

c.588A>C

3 papers

NM_000169.3

p.R196T

c.587G>C

1 paper

NM_000169.3

p.R196K

c.587G>A