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

30 papers

NM_000169.3

p.P60L

c.179C>T

Surrounding Variants

6 papers

NM_000169.3

p.P60S

c.178C>T

1 paper

NM_000169.3

p.P60T

c.178C>A

1 paper

NM_000169.3

p.P60delFs

c.178_179delGG

3 papers

NM_000169.3

p.D61fs

c.181_182fs

1 paper

NM_000169.3

p.E59D

c.177G>T

1 paper

NM_000169.3

p.E59D

c.177G>C

1 paper

NM_000169.3

p.E59delFs

c.176delT

1 paper

NM_000169.3

p.P60delFs

c.179_180delTG

7 papers

NM_000169.3

p.E59V

c.176A>T

1 paper

NM_000169.3

p.D61D

c.183T>C

23 papers

NM_000169.3

p.E59K

c.175G>A

1 paper

NM_000169.3

p.D55_E58delFs

c.164_173del10