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

6 papers

NM_000169.3

p.K140T

c.419A>C

Surrounding Variants

1 paper

NM_000169.3

p.N139_K140insFs

c.417_418insG

13 papers

NM_000169.3

p.T141I

c.422C>T

1 paper

NM_000169.3

p.T141N

c.422C>A

1 paper

NM_000169.3

p.G138_K140delFs

c.414_418del5

40 papers

NM_000169.3

p.N139S

c.416A>G

1 paper

NM_000169.3

p.N139T

c.416A>C

37 papers

NM_000169.3

p.C142R

c.424T>C

1 paper

NM_000169.3

p.C142S

c.424T>A

1 paper

NM_000169.3

p.G138insFs

c.413dupG

1 paper

NM_000169.3

p.G138delFs

c.413delC

1 paper

NM_000169.3

p.C142F

c.425G>T

1 paper

NM_000169.3

p.C142S

c.425G>C