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.A121fs

c.361_362fs

Surrounding Variants

1 paper

NM_000169.3

p.N122fs

c.364_365fs

1 paper

NM_000169.3

p.L120_A121delFs

c.360_361delCT

4 papers

NM_000169.3

p.A121delFs

c.363delA

8 papers

NM_000169.3

p.A121P

c.361G>C

15 papers

NM_000169.3

p.A121T

c.361G>A

1 paper

NM_000169.3

p.N122I

c.365A>T

1 paper

NM_000169.3

p.N122S

c.365A>G

1 paper

NM_000169.3

p.A121_N122delFs

c.361_364del4

2 papers

NM_000169.3

p.L120_N122del0

c.359_364del6

2 papers

NM_000169.3

p.N122delFs

c.365delT

1 paper

NM_000169.3

p.L120fs

c.358_359fs

12 papers

NM_000169.3

p.L120P

c.359T>C