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

4 papers

NM_000169.3

p.L167P

c.500T>C

Surrounding Variants

5 papers

NM_000169.3

p.L167Q

c.500T>A

2 papers

NM_000169.3

p.K168*

c.502A>T

1 paper

NM_000169.3

p.K168Q

c.502A>C

2 papers

NM_000169.3

p.L166insFs

c.497_498insA

2 papers

NM_000169.3

p.L166P

c.497T>C

8 papers

NM_000169.3

p.K168R

c.503A>G

24 papers

NM_000169.3

p.L166V

c.496C>G

3 papers

NM_000169.3

p.K168N

c.504A>T

4 papers

NM_000169.3

p.K168N

c.504A>C

3 papers

NM_000169.3

p.D165E

c.495T>G

1 paper

NM_000169.3

p.F169L

c.505T>C

3 papers

NM_000169.3

p.D165E

c.495T>A