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.W47G

c.139T>G

Surrounding Variants

6 papers

NM_000169.3

p.W47R

c.139T>C

6 papers

NM_000169.3

p.W47R

c.139T>A

3 papers

NM_000169.3

p.W47L

c.140G>T

18 papers

NM_000169.3

p.W47*

c.140G>A

2 papers

NM_000169.3

p.H46Q

c.138C>G

2 papers

NM_000169.3

p.H46Q

c.138C>A

2 papers

NM_000169.3

p.M42_H46delFs

c.125_137del13

1 paper

NM_000169.3

p.W47C

c.141G>T

1 paper

NM_000169.3

p.W47C

c.141G>C

17 papers

NM_000169.3

p.W47*

c.141G>A

3 papers

NM_000169.3

p.H46L

c.137A>T

37 papers

NM_000169.3

p.H46R

c.137A>G