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

2 papers

NM_000169.3

p.R196S

c.588A>C

Surrounding Variants

2 papers

NM_000169.3

p.R196S

c.588A>T

3 papers

NM_000169.3

p.R196T

c.587G>C

1 paper

NM_000169.3

p.R196K

c.587G>A

1 paper

NM_000169.3

p.S197N

c.590G>A

1 paper

NM_000169.3

p.G195insFs

c.583_584insG

1 paper

NM_000169.3

p.S197delFs

c.590delC

19 papers

NM_000169.3

p.G195V

c.584G>T

2 papers

NM_000169.3

p.G195insFs

c.583_584ins5

26 papers

NM_000169.3

p.I198T

c.593T>C

2 papers

NM_000169.3

p.G195R

c.583G>C

1 paper

NM_000169.3

p.G195S

c.583G>A

1 paper

NM_000169.3

p.G195fs

c.583_584fs