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

4 papers

NM_000169.3

p.A307G

c.920C>G

Surrounding Variants

31 papers

NM_000169.3

p.A307T

c.919G>A

10 papers

NM_000169.3

p.Q306*

c.916C>T

1 paper

NM_000169.3

p.P305delFs

c.915delA

10 papers

NM_000169.3

p.K308N

c.924A>T

10 papers

NM_000169.3

p.K308N

c.924A>C

1 paper

NM_000169.3

p.I303_K308delFs

c.908_923del16

5 papers

NM_000169.3

p.P305delFs

c.914delG

1 paper

NM_000169.3

p.A309P

c.925G>C

4 papers

NM_000169.3

p.A309V

c.926C>T

1 paper

NM_000169.3

p.A309G

c.926C>G

1 paper

NM_000169.3

p.P305insFs

c.913_914insA

11 papers

NM_000169.3

p.L310F

c.928C>T