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

1 paper

NM_000169.3

p.A160P

c.478G>C

Surrounding Variants

1 paper

NM_000169.3

p.F159delFs

c.477delA

3 papers

NM_000169.3

p.A160D

c.479C>A

1 paper

NM_000169.3

p.D161N

c.481G>A

1 paper

NM_000169.3

p.F159_A160del2

c.475_479del6

1 paper

NM_000169.3

p.Q157_A160del4

c.469_479del12

2 papers

NM_000169.3

p.D161G

c.482A>G

2 papers

NM_000169.3

p.A156_D161del0

c.467_481del15

1 paper

NM_000169.3

p.T158I

c.473C>T

1 paper

NM_000169.3

p.T158N

c.473C>A

13 papers

NM_000169.3

p.W162G

c.484T>G

16 papers

NM_000169.3

p.W162R

c.484T>C

16 papers

NM_000169.3

p.W162R

c.484T>A