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.N179K

c.537T>G

Surrounding Variants

1 paper

NM_000169.3

p.N179K

c.537T>A

3 papers

NM_000169.3

p.L180V

c.538T>G

1 paper

NM_000169.3

p.E178_N179del2

c.532_536del6

2 papers

NM_000169.3

p.L180fs

c.538_539fs

1 paper

NM_000169.3

p.N179S

c.536A>G

1 paper

NM_000169.3

p.L180W

c.539T>G

9 papers

NM_000169.3

p.L180F

c.540G>T

10 papers

NM_000169.3

p.L180F

c.540G>C

2 papers

NM_000169.3

p.L180delFs

c.539delA

1 paper

NM_000169.3

p.N179_L180del2

c.535_539del6

1 paper

NM_000169.3

p.E178*

c.532G>T

1 paper

NM_000169.3

p.A181G

c.542C>G