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

8 papers

NM_000169.3

p.C56F

c.167G>T

Surrounding Variants

10 papers

NM_000169.3

p.C56S

c.167G>C

20 papers

NM_000169.3

p.C56Y

c.167G>A

8 papers

NM_000169.3

p.C56G

c.166T>G

1 paper

NM_000169.3

p.C56R

c.166T>C

10 papers

NM_000169.3

p.C56S

c.166T>A

1 paper

NM_000169.3

p.C56W

c.168C>G

8 papers

NM_000169.3

p.C56*

c.168C>A

9 papers

NM_000169.3

p.Q57*

c.169C>T

1 paper

NM_000169.3

p.Q57E

c.169C>G

7 papers

NM_000169.3

p.Q57L

c.170A>T

7 papers

NM_000169.3

p.D55V

c.164A>T

5 papers

NM_000169.3

p.Q57R

c.170A>G