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

9 papers

NM_000169.3

p.K391T

c.1172A>C

Surrounding Variants

8 papers

NM_000169.3

p.K391E

c.1171A>G

1 paper

NM_000169.3

p.V390V

c.1170G>A

1 paper

NM_000169.3

p.R392fs

c.1174_1175fs

1 paper

NM_000169.3

p.V390G

c.1169T>G

1 paper

NM_000169.3

p.V390A

c.1169T>C

1 paper

NM_000169.3

p.V390E

c.1169T>A

2 papers

NM_000169.3

p.R392T

c.1175G>C

1 paper

NM_000169.3

p.R392S

c.1176G>T

5 papers

NM_000169.3

p.V390insFs

c.1168_1169insT

1 paper

NM_000169.3

p.R392S

c.1176G>C

10 papers

NM_000169.3

p.V390M

c.1168G>A

1 paper

NM_000169.3

p.K393insFs

c.1177_1178insG