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

3 papers

NM_000169.3

p.D182N

c.544G>A

Surrounding Variants

2 papers

NM_000169.3

p.D182D

c.546T>C

1 paper

NM_000169.3

p.A181G

c.542C>G

2 papers

NM_000169.3

p.G183C

c.547G>T

1 paper

NM_000169.3

p.G183R

c.547G>C

16 papers

NM_000169.3

p.G183S

c.547G>A

1 paper

NM_000169.3

p.L180_G183Fs

c.539_547delinsCFs

1 paper

NM_000169.3

p.N179_L180del2

c.535_539del6

9 papers

NM_000169.3

p.L180F

c.540G>T

2 papers

NM_000169.3

p.G183Splc

c.547+1G>T

10 papers

NM_000169.3

p.L180F

c.540G>C

3 papers

NM_000169.3

p.G183Splc

c.547+1G>C

20 papers

NM_000169.3

p.G183Splc

c.547+1G>A