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.W44R

c.130T>C

Surrounding Variants

2 papers

NM_000169.3

p.W44G

c.130T>G

2 papers

NM_000169.3

p.W44R

c.130T>A

2 papers

NM_000169.3

p.M42_G43delFs

c.126_129del4

8 papers

NM_000169.3

p.W44*

c.131G>A

14 papers

NM_000169.3

p.G43V

c.128G>T

9 papers

NM_000169.3

p.W44C

c.132G>T

8 papers

NM_000169.3

p.W44C

c.132G>C

11 papers

NM_000169.3

p.G43D

c.128G>A

9 papers

NM_000169.3

p.W44*

c.132G>A

3 papers

NM_000169.3

p.G43insFs

c.127_128ins4

7 papers

NM_000169.3

p.G43R

c.127G>C

9 papers

NM_000169.3

p.G43S

c.127G>A