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

20 papers

NM_000169.3

p.F295C

c.884T>G

Surrounding Variants

2 papers

NM_000169.3

p.F295fs

c.883_884fs

7 papers

NM_000169.3

p.M296L

c.886A>T

41 papers

NM_000169.3

p.M296V

c.886A>G

6 papers

NM_000169.3

p.M296L

c.886A>C

2 papers

NM_000169.3

p.F295delFs

c.885delG

10 papers

NM_000169.3

p.L294*

c.881T>G

20 papers

NM_000169.3

p.L294S

c.881T>C

3 papers

NM_000169.3

p.M296T

c.887T>C

10 papers

NM_000169.3

p.L294*

c.881T>A

90 papers

NM_000169.3

p.M296I

c.888G>T

90 papers

NM_000169.3

p.M296I

c.888G>C

92 papers

NM_000169.3

p.M296I

c.888G>A