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.G132V

c.395G>T

Surrounding Variants

1 paper

NM_000169.3

p.G132A

c.395G>C

20 papers

NM_000169.3

p.G132E

c.395G>A

19 papers

NM_000169.3

p.G132R

c.394G>C

21 papers

NM_000169.3

p.G132R

c.394G>A

1 paper

NM_000169.3

p.I133fs

c.397_398fs

1 paper

NM_000169.3

p.G132delFs

c.396delC

1 paper

NM_000169.3

p.G128_G132del5

c.382_395del15

1 paper

NM_000169.3

p.I133insFs

c.398_399ins4

1 paper

NM_000169.3

p.L131R

c.392T>G

18 papers

NM_000169.3

p.L131P

c.392T>C

3 papers

NM_000169.3

p.I133N

c.398T>A

1 paper

NM_000169.3

p.L131Q

c.392T>A