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

3 papers

NM_000169.3

p.Y397*

c.1191T>A

Surrounding Variants

3 papers

NM_000169.3

p.Y397*

c.1191T>G

12 papers

NM_000169.3

p.E398*

c.1192G>T

8 papers

NM_000169.3

p.E398K

c.1192G>A

2 papers

NM_000169.3

p.E398fs

c.1192_1193fs

2 papers

NM_000169.3

p.F396delFs

c.1188delG

1 paper

NM_000169.3

p.E398G

c.1193A>G

3 papers

NM_000169.3

p.E398A

c.1193A>C

2 papers

NM_000169.3

p.F396_Y397insFs

c.1188_1189insT

2 papers

NM_000169.3

p.F396delFs

c.1187delA

10 papers

NM_000169.3

p.F396Y

c.1187T>A

8 papers

NM_000169.3

p.E398delFs

c.1194delT

1 paper

NM_000169.3

p.G395insFs

c.1185dupG