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

3 papers

NM_000169.3

p.D61fs

c.181_182fs

Surrounding Variants

1 paper

NM_000169.3

p.P60delFs

c.179_180delTG

1 paper

NM_000169.3

p.P60delFs

c.178_179delGG

1 paper

NM_000169.3

p.D61D

c.183T>C

30 papers

NM_000169.3

p.P60L

c.179C>T

6 papers

NM_000169.3

p.P60S

c.178C>T

1 paper

NM_000169.3

p.P60T

c.178C>A

2 papers

NM_000169.3

p.S62fs

c.184_185fs

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

2 papers

NM_000169.3

p.S62insFs

c.184dupT

1 paper

NM_000169.3

p.D61_S62delFs

c.182_185del4