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.L120fs

c.358_359fs

Surrounding Variants

12 papers

NM_000169.3

p.L120P

c.359T>C

8 papers

NM_000169.3

p.A121P

c.361G>C

15 papers

NM_000169.3

p.A121T

c.361G>A

9 papers

NM_000169.3

p.L120V

c.358C>G

1 paper

NM_000169.3

p.L120_A121delFs

c.360_361delCT

2 papers

NM_000169.3

p.A121fs

c.361_362fs

1 paper

NM_000169.3

p.N122fs

c.364_365fs

4 papers

NM_000169.3

p.A121delFs

c.363delA

11 papers

NM_000169.3

p.Q119*

c.355C>T

1 paper

NM_000169.3

p.Q119K

c.355C>A

1 paper

NM_000169.3

p.I117_Q119Fs

c.350_355delinsAFs

1 paper

NM_000169.3

p.F113_R118del0

c.337_354del18