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

4 papers

NM_000169.3

p.T41delFs

c.123delG

Surrounding Variants

2 papers

NM_000169.3

p.M42fs

c.124_125fs

12 papers

NM_000169.3

p.M42L

c.124A>T

45 papers

NM_000169.3

p.M42V

c.124A>G

12 papers

NM_000169.3

p.M42L

c.124A>C

2 papers

NM_000169.3

p.G35_T41del7

c.103_122del21

6 papers

NM_000169.3

p.M42R

c.125T>G

26 papers

NM_000169.3

p.M42T

c.125T>C

2 papers

NM_000169.3

p.M42K

c.125T>A

2 papers

NM_000169.3

p.T41T

c.123C>T

8 papers

NM_000169.3

p.M42I

c.126G>T

1 paper

NM_000169.3

p.M42_G43insFs

c.126_127insCA

8 papers

NM_000169.3

p.M42I

c.126G>C