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

6 papers

NM_000169.3

p.C63S

c.188G>C

Surrounding Variants

23 papers

NM_000169.3

p.C63Y

c.188G>A

4 papers

NM_000169.3

p.C63G

c.187T>G

4 papers

NM_000169.3

p.C63R

c.187T>C

6 papers

NM_000169.3

p.C63S

c.187T>A

1 paper

NM_000169.3

p.D61_C63del0

c.183_188del6

1 paper

NM_000169.3

p.D61_S62delFs

c.182_185del4

2 papers

NM_000169.3

p.I64F

c.190A>T

1 paper

NM_000169.3

p.S62_C63delFs

c.185_188del4

2 papers

NM_000169.3

p.S62insFs

c.184dupT

1 paper

NM_000169.3

p.I64I

c.192C>T

2 papers

NM_000169.3

p.S62fs

c.184_185fs

1 paper

NM_000169.3

p.D61D

c.183T>C