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

10 papers

NM_000169.3

p.Y134D

c.400T>G

Surrounding Variants

4 papers

NM_000169.3

p.Y134H

c.400T>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

1 paper

NM_000169.3

p.I133insFs

c.398_399ins4

7 papers

NM_000169.3

p.Y134*

c.402T>G

7 papers

NM_000169.3

p.Y134*

c.402T>A

3 papers

NM_000169.3

p.I133N

c.398T>A

1 paper

NM_000169.3

p.I133fs

c.397_398fs

1 paper

NM_000169.3

p.A135S

c.403G>T

1 paper

NM_000169.3

p.Y134delFs

c.402delA

1 paper

NM_000169.3

p.G132delFs

c.396delC