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

295 papers

NM_000169.3

p.K213_P214Splc

c.639+919G>A

Surrounding Variants

1 paper

NM_000169.3

p.K213_P214Splc

c.639+919G>T

1 paper

NM_000169.3

p.K213_P214Splc

c.639+919G>C

2 papers

NM_000169.3

p.K213_P214Splc

c.640-814T>C

2 papers

NM_000169.3

p.K213_P214Splc

c.639+890T>C

1 paper

NM_000169.3

p.K213_P214Splc

c.640-856A>G

19 papers

NM_000169.3

p.K213_P214Splc

c.639+861C>T

1 paper

NM_000169.3

p.K213_P214Splc

c.640-730A>G

2 papers

NM_000169.3

p.K213_P214Splc

c.639+771C>T

1 paper

NM_000169.3

p.K213_P214Splc

c.639+761G>A

3 papers

NM_000169.3

p.K213_P214Splc

c.639+739C>T

1 paper

NM_000169.3

p.K213_P214Splc

c.639+715C>T

5 papers

NM_000169.3

p.K213_P214Splc

c.639+1326C>T