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.R38G

c.112A>G

Surrounding Variants

1 paper

NM_000169.3

p.A37_R38insFs

c.111_112insA

1 paper

NM_000169.3

p.R38K

c.113G>A

9 papers

NM_000169.3

p.A37V

c.110C>T

4 papers

NM_000169.3

p.A37S

c.109G>T

2 papers

NM_000169.3

p.A37P

c.109G>C

23 papers

NM_000169.3

p.A37T

c.109G>A

3 papers

NM_000169.3

p.T39S

c.115A>T

1 paper

NM_000169.3

p.R38delFs

c.113delC

6 papers

NM_000169.3

p.L36F

c.108G>T

1 paper

NM_000169.3

p.L36_A37insFs

c.108_109ins5

6 papers

NM_000169.3

p.L36F

c.108G>C

1 paper

NM_000169.3

p.T39M

c.116C>T