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

1 paper

NM_000169.3

p.V199delFs

c.596delA

Surrounding Variants

4 papers

NM_000169.3

p.V199insFs

c.595_596insG

2 papers

NM_000169.3

p.V199G

c.596T>G

6 papers

NM_000169.3

p.V199A

c.596T>C

18 papers

NM_000169.3

p.V199M

c.595G>A

1 paper

NM_000169.3

p.V199fs

c.595_596fs

4 papers

NM_000169.3

p.Y200C

c.599A>G

2 papers

NM_000169.3

p.S201A

c.601T>G

26 papers

NM_000169.3

p.I198T

c.593T>C

9 papers

NM_000169.3

p.S201F

c.602C>T

5 papers

NM_000169.3

p.S201Y

c.602C>A

1 paper

NM_000169.3

p.S201S

c.603C>G

1 paper

NM_000169.3

p.S197delFs

c.590delC