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.P110S

c.328C>T

Surrounding Variants

3 papers

NM_000169.3

p.P110fs

c.328_329fs

1 paper

NM_000169.3

p.A108insFs

c.323_324ins4

3 papers

NM_000169.3

p.L106_D109delFs

c.317_327del11

1 paper

NM_000169.3

p.P110fs

c.328_329fs

3 papers

NM_000169.3

p.P110delFs

c.329delG

8 papers

NM_000169.3

p.D109G

c.326A>G

1 paper

NM_000169.3

p.D109insFs

c.325_326insCG

3 papers

NM_000169.3

p.D109N

c.325G>A

4 papers

NM_000169.3

p.Q111*

c.331C>T

1 paper

NM_000169.3

p.A108delFs

c.323delG

5 papers

NM_000169.3

p.A108T

c.322G>A

158 papers

NM_000169.3

p.R112C

c.334C>T