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

24 papers

NM_000169.3

p.L129P

c.386T>C

Surrounding Variants

1 paper

NM_000169.3

p.L129Q

c.386T>A

1 paper

NM_000169.3

p.S126_G128insFs

c.376_383dup8

6 papers

NM_000169.3

p.K130E

c.388A>G

17 papers

NM_000169.3

p.G128E

c.383G>A

2 papers

NM_000169.3

p.K130R

c.389A>G

1 paper

NM_000169.3

p.K130T

c.389A>C

3 papers

NM_000169.3

p.K130insFs

c.389_390insT

2 papers

NM_000169.3

p.S126_L129del4

c.376_386del12

2 papers

NM_000169.3

p.L129_K130insFs

c.386_389dup4

1 paper

NM_000169.3

p.K130ins0

c.388_390dupAAG

2 papers

NM_000169.3

p.L131fs

c.391_392fs

1 paper

NM_000169.3

p.L131R

c.392T>G