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

11 papers

NM_000169.3

p.L45P

c.134T>C

Surrounding Variants

4 papers

NM_000169.3

p.L45R

c.134T>G

1 paper

NM_000169.3

p.G43_W44delFs

c.128_132del5

9 papers

NM_000169.3

p.W44C

c.132G>T

8 papers

NM_000169.3

p.W44C

c.132G>C

9 papers

NM_000169.3

p.W44*

c.132G>A

19 papers

NM_000169.3

p.H46Y

c.136C>T

8 papers

NM_000169.3

p.W44*

c.131G>A

3 papers

NM_000169.3

p.H46L

c.137A>T

37 papers

NM_000169.3

p.H46R

c.137A>G

12 papers

NM_000169.3

p.H46P

c.137A>C

2 papers

NM_000169.3

p.W44G

c.130T>G

2 papers

NM_000169.3

p.W44R

c.130T>C