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.S304N

c.911G>A

Surrounding Variants

6 papers

NM_000169.3

p.S304T

c.911G>C

1 paper

NM_000169.3

p.P305insFs

c.913_914insA

1 paper

NM_000169.3

p.I303S

c.908T>G

2 papers

NM_000169.3

p.I303T

c.908T>C

6 papers

NM_000169.3

p.I303N

c.908T>A

5 papers

NM_000169.3

p.P305delFs

c.914delG

6 papers

NM_000169.3

p.I303F

c.907A>T

10 papers

NM_000169.3

p.Q306*

c.916C>T

1 paper

NM_000169.3

p.P305delFs

c.915delA

1 paper

NM_000169.3

p.H302R

c.905A>G

1 paper

NM_000169.3

p.H302fs

c.904_905fs

31 papers

NM_000169.3

p.A307T

c.919G>A