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

3 papers

NM_000169.3

p.Y216*

c.648T>A

Surrounding Variants

3 papers

NM_000169.3

p.Y216fs

c.646_647fs

3 papers

NM_000169.3

p.Y216*

c.648T>G

32 papers

NM_000169.3

p.Y216C

c.647A>G

6 papers

NM_000169.3

p.Y216insFs

c.646dupT

1 paper

NM_000169.3

p.Y216delFs

c.646delA

10 papers

NM_000169.3

p.Y216D

c.646T>G

1 paper

NM_000169.3

p.T217I

c.650C>T

435 papers

NM_000169.3

p.N215S

c.644A>G

2 papers

NM_000169.3

p.N215H

c.643A>C

1 paper

NM_000169.3

p.E218D

c.654A>T

1 paper

NM_000169.3

p.E218D

c.654A>C

1 paper

NM_000169.3

p.E218_I219insFs

c.654_655insC