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.N408fs

c.1222_1223fs

Surrounding Variants

1 paper

NM_000169.3

p.N408fs

c.1222_1223fs

2 papers

NM_000169.3

p.I407R

c.1220T>G

9 papers

NM_000169.3

p.I407K

c.1220T>A

8 papers

NM_000169.3

p.N408delFs

c.1223delT

7 papers

NM_000169.3

p.P409S

c.1225C>T

20 papers

NM_000169.3

p.P409A

c.1225C>G

8 papers

NM_000169.3

p.P409T

c.1225C>A

1 paper

NM_000169.3

p.I407V

c.1219A>G

1 paper

NM_000169.3

p.P409L

c.1226C>T

1 paper

NM_000169.3

p.S405_H406delFs

c.1213_1217del5

1 paper

NM_000169.3

p.H406R

c.1217A>G

33 papers

NM_000169.3

p.T410A

c.1228A>G