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.N224T

c.671A>C

Surrounding Variants

31 papers

NM_000169.3

p.N224S

c.671A>G

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

1 paper

NM_000169.3

p.N224fs

c.670_671fs

15 papers

NM_000169.3

p.N224D

c.670A>G

1 paper

NM_000169.3

p.N224H

c.670A>C

2 papers

NM_000169.3

p.C223C

c.669C>T

6 papers

NM_000169.3

p.H225D

c.673C>G

1 paper

NM_000169.3

p.C223*

c.669C>A

1 paper

NM_000169.3

p.H225fs

c.673_674fs

2 papers

NM_000169.3

p.C223F

c.668G>T