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

22 papers

NM_000169.3

p.A135V

c.404C>T

Surrounding Variants

1 paper

NM_000169.3

p.A135S

c.403G>T

1 paper

NM_000169.3

p.Y134delFs

c.402delA

7 papers

NM_000169.3

p.Y134*

c.402T>G

7 papers

NM_000169.3

p.Y134*

c.402T>A

1 paper

NM_000169.3

p.D136fs

c.406_407fs

8 papers

NM_000169.3

p.D136Y

c.406G>T

6 papers

NM_000169.3

p.D136H

c.406G>C

2 papers

NM_000169.3

p.Y134C

c.401A>G

14 papers

NM_000169.3

p.Y134S

c.401A>C

1 paper

NM_000169.3

p.Y134delFs

c.400delA

13 papers

NM_000169.3

p.D136E

c.408T>G

10 papers

NM_000169.3

p.Y134D

c.400T>G