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.S345P

c.1033T>C

Surrounding Variants

1 paper

NM_000169.3

p.S345A

c.1033T>G

12 papers

NM_000169.3

p.S345fs

c.1033_1034fs

1 paper

NM_000169.3

p.S345L

c.1034C>T

14 papers

NM_000169.3

p.S345*

c.1034C>G

3 papers

NM_000169.3

p.L344fs

c.1030_1031fs

12 papers

NM_000169.3

p.S345*

c.1034C>A

1 paper

NM_000169.3

p.S345delFs

c.1033delA

13 papers

NM_000169.3

p.L344P

c.1031T>C

3 papers

NM_000169.3

p.S345fs

c.1033_1034fs

1 paper

NM_000169.3

p.S345delFs

c.1034delG

16 papers

NM_000169.3

p.S345delFs

c.1033_1034delGA

1 paper

NM_000169.3

p.L344insFs

c.1030_1031insT