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

17 papers

NM_000169.3

p.G128E

c.383G>A

Surrounding Variants

1 paper

NM_000169.3

p.S126_G128insFs

c.376_383dup8

24 papers

NM_000169.3

p.L129P

c.386T>C

1 paper

NM_000169.3

p.L129Q

c.386T>A

1 paper

NM_000169.3

p.K127*

c.379A>T

2 papers

NM_000169.3

p.S126R

c.378C>G

2 papers

NM_000169.3

p.S126R

c.378C>A

1 paper

NM_000169.3

p.V124_S126delFs

c.370_377del8

6 papers

NM_000169.3

p.K130E

c.388A>G

2 papers

NM_000169.3

p.S126I

c.377G>T

2 papers

NM_000169.3

p.S126T

c.377G>C

3 papers

NM_000169.3

p.S126N

c.377G>A

2 papers

NM_000169.3

p.K130R

c.389A>G