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

1 paper

NM_000169.3

p.G138insFs

c.413dupG

Surrounding Variants

1 paper

NM_000169.3

p.G138delFs

c.413delC

23 papers

NM_000169.3

p.G138E

c.413G>A

11 papers

NM_000169.3

p.G138R

c.412G>C

11 papers

NM_000169.3

p.G138R

c.412G>A

40 papers

NM_000169.3

p.N139S

c.416A>G

1 paper

NM_000169.3

p.N139T

c.416A>C

1 paper

NM_000169.3

p.G138fs

c.412_413fs

1 paper

NM_000169.3

p.N139_K140insFs

c.417_418insG

1 paper

NM_000169.3

p.V137A

c.410T>C

30 papers

NM_000169.3

p.V137D

c.410T>A

5 papers

NM_000169.3

p.V137delFs

c.409delC

2 papers

NM_000169.3

p.V137fs

c.409_410fs