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

6 papers

NM_000169.3

p.I303F

c.907A>T

Surrounding Variants

1 paper

NM_000169.3

p.I303S

c.908T>G

2 papers

NM_000169.3

p.I303T

c.908T>C

6 papers

NM_000169.3

p.I303N

c.908T>A

1 paper

NM_000169.3

p.H302R

c.905A>G

1 paper

NM_000169.3

p.H302fs

c.904_905fs

6 papers

NM_000169.3

p.S304T

c.911G>C

1 paper

NM_000169.3

p.S304N

c.911G>A

2 papers

NM_000169.3

p.R301_H302insFs

c.903_904insG

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

97 papers

NM_000169.3

p.R301*

c.901C>T