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

2 papers

NM_000169.3

p.H225Q

c.675C>G

Surrounding Variants

2 papers

NM_000169.3

p.H225Q

c.675C>A

4 papers

NM_000169.3

p.W226G

c.676T>G

18 papers

NM_000169.3

p.W226R

c.676T>C

18 papers

NM_000169.3

p.W226R

c.676T>A

1 paper

NM_000169.3

p.H225_W226delins

c.675_676delinsAA

12 papers

NM_000169.3

p.H225R

c.674A>G

27 papers

NM_000169.3

p.W226*

c.677G>A

6 papers

NM_000169.3

p.H225D

c.673C>G

1 paper

NM_000169.3

p.H225fs

c.673_674fs

1 paper

NM_000169.3

p.N224K

c.672T>G

1 paper

NM_000169.3

p.N224K

c.672T>A

2 papers

NM_000169.3

p.N224delFs

c.671delT