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.M187K

c.560T>A

Surrounding Variants

10 papers

NM_000169.3

p.M187R

c.560T>G

13 papers

NM_000169.3

p.M187T

c.560T>C

14 papers

NM_000169.3

p.M187I

c.561G>T

1 paper

NM_000169.3

p.M187fs

c.559_560fs

14 papers

NM_000169.3

p.M187I

c.561G>C

14 papers

NM_000169.3

p.M187I

c.561G>A

1 paper

NM_000169.3

p.M187delFs

c.560delA

6 papers

NM_000169.3

p.M187delFs

c.559_560delAT

4 papers

NM_000169.3

p.M187fs

c.559_560fs

19 papers

NM_000169.3

p.M187V

c.559A>G

1 paper

NM_000169.3

p.H186_M187insFs

c.558_559insC

1 paper

NM_000169.3

p.S188A

c.562T>G