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.M76_V77insT

c.226_230ins3

Surrounding Variants

1 paper

NM_000169.3

p.M76R

c.227T>G

13 papers

NM_000169.3

p.M76T

c.227T>C

2 papers

NM_000169.3

p.M76K

c.227T>A

3 papers

NM_000169.3

p.L75F

c.223C>T

5 papers

NM_000169.3

p.L75V

c.223C>G

1 paper

NM_000169.3

p.V77delFs

c.229delC

1 paper

NM_000169.3

p.V77fs

c.229_230fs

1 paper

NM_000169.3

p.M76_V77del1

c.227_229delCCA

1 paper

NM_000169.3

p.A73del1

c.217_219delTGC

1 paper

NM_000169.3

p.E74K

c.220G>A

16 papers

NM_000169.3

p.S78*

c.233C>G

16 papers

NM_000169.3

p.S78*

c.233C>A