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.A350delFs

c.1049delG

Surrounding Variants

4 papers

NM_000169.3

p.A350fs

c.1048_1049fs

1 paper

NM_000169.3

p.A350S

c.1048G>T

8 papers

NM_000169.3

p.A350P

c.1048G>C

24 papers

NM_000169.3

p.W349*

c.1047G>A

1 paper

NM_000169.3

p.V351delFs

c.1051_1052delAC

1 paper

NM_000169.3

p.A352fs

c.1054_1055fs

4 papers

NM_000169.3

p.A352P

c.1054G>C

2 papers

NM_000169.3

p.W349S

c.1046G>C

23 papers

NM_000169.3

p.W349*

c.1046G>A

1 paper

NM_000169.3

p.W349insFs

c.1045_1046insA

13 papers

NM_000169.3

p.W349R

c.1045T>C

13 papers

NM_000169.3

p.W349R

c.1045T>A