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

12 papers

NM_000169.3

p.W24R

c.70T>A

Surrounding Variants

5 papers

NM_000169.3

p.W24G

c.70T>G

11 papers

NM_000169.3

p.W24R

c.70T>C

15 papers

NM_000169.3

p.W24*

c.71G>A

3 papers

NM_000169.3

p.W24C

c.72G>T

3 papers

NM_000169.3

p.W24C

c.72G>C

12 papers

NM_000169.3

p.W24*

c.72G>A

1 paper

NM_000169.3

p.S23A

c.67T>G

1 paper

NM_000169.3

p.D25N

c.73G>A

1 paper

NM_000169.3

p.D25V

c.74A>T

2 papers

NM_000169.3

p.D25delFs

c.73delC

1 paper

NM_000169.3

p.A20_D25del0

c.59_73del15

2 papers

NM_000169.3

p.V22G

c.65T>G