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

5 papers

NM_000169.3

p.A15V

c.44C>T

Surrounding Variants

6 papers

NM_000169.3

p.A15G

c.44C>G

15 papers

NM_000169.3

p.A15E

c.44C>A

4 papers

NM_000169.3

p.A15P

c.43G>C

5 papers

NM_000169.3

p.A15T

c.43G>A

3 papers

NM_000169.3

p.C12_L14del0

c.34_42del9

1 paper

NM_000169.3

p.L14fs

c.40_41fs

2 papers

NM_000169.3

p.C12_L14delFs

c.35_41del7

1 paper

NM_000169.3

p.L16insFs

c.46_47insA

3 papers

NM_000169.3

p.L16R

c.47T>G

9 papers

NM_000169.3

p.L14P

c.41T>C

6 papers

NM_000169.3

p.L16P

c.47T>C

2 papers

NM_000169.3

p.L16H

c.47T>A