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.S238S

c.714T>C

Surrounding Variants

4 papers

NM_000169.3

p.S238R

c.714T>G

4 papers

NM_000169.3

p.S238R

c.714T>A

1 paper

NM_000169.3

p.S238T

c.713G>C

36 papers

NM_000169.3

p.S238N

c.713G>A

1 paper

NM_000169.3

p.I239L

c.715A>T

1 paper

NM_000169.3

p.I239L

c.715A>C

1 paper

NM_000169.3

p.S238insFs

c.714dupT

1 paper

NM_000169.3

p.I239fs

c.715_716fs

11 papers

NM_000169.3

p.I239T

c.716T>C

4 papers

NM_000169.3

p.S238R

c.712A>C

13 papers

NM_000169.3

p.I239M

c.717A>G

1 paper

NM_000169.3

p.I239insFs

c.716_717insT