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.F169L

c.507T>G

Surrounding Variants

1 paper

NM_000169.3

p.F169fs

c.505_506fs

1 paper

NM_000169.3

p.F169L

c.507T>A

8 papers

NM_000169.3

p.F169S

c.506T>C

7 papers

NM_000169.3

p.D170Y

c.508G>T

8 papers

NM_000169.3

p.D170H

c.508G>C

18 papers

NM_000169.3

p.D170N

c.508G>A

1 paper

NM_000169.3

p.K168_F169del2

c.502_506del6

1 paper

NM_000169.3

p.F169L

c.505T>C

17 papers

NM_000169.3

p.D170V

c.509A>T

4 papers

NM_000169.3

p.D170G

c.509A>G

6 papers

NM_000169.3

p.D170A

c.509A>C

3 papers

NM_000169.3

p.K168N

c.504A>T