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

32 papers

NM_000169.3

p.L300P

c.899T>C

Surrounding Variants

6 papers

NM_000169.3

p.L300H

c.899T>A

17 papers

NM_000169.3

p.L300F

c.898C>T

2 papers

NM_000169.3

p.L300L

c.900C>A

97 papers

NM_000169.3

p.R301*

c.901C>T

33 papers

NM_000169.3

p.R301G

c.901C>G

8 papers

NM_000169.3

p.D299E

c.897C>G

8 papers

NM_000169.3

p.D299E

c.897C>A

4 papers

NM_000169.3

p.R301L

c.902G>T

39 papers

NM_000169.3

p.R301P

c.902G>C

273 papers

NM_000169.3

p.R301Q

c.902G>A

3 papers

NM_000169.3

p.D299V

c.896A>T

4 papers

NM_000169.3

p.D299G

c.896A>G