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.Q107L

c.320A>T

Surrounding Variants

3 papers

NM_000169.3

p.Q107R

c.320A>G

14 papers

NM_000169.3

p.Q107*

c.319C>T

1 paper

NM_000169.3

p.Q107K

c.319C>A

2 papers

NM_000169.3

p.L106fs

c.316_317fs

5 papers

NM_000169.3

p.A108T

c.322G>A

10 papers

NM_000169.3

p.L106R

c.317T>G

1 paper

NM_000169.3

p.L106P

c.317T>C

1 paper

NM_000169.3

p.L106H

c.317T>A

5 papers

NM_000169.3

p.L106F

c.316C>T

1 paper

NM_000169.3

p.A108delFs

c.323delG

1 paper

NM_000169.3

p.D109insFs

c.325_326insCG

3 papers

NM_000169.3

p.D109N

c.325G>A