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.H9R

c.26A>G

Surrounding Variants

4 papers

NM_000169.3

p.H9delFs

c.25delG

1 paper

NM_000169.3

p.H9fs

c.25_26fs

7 papers

NM_000169.3

p.H9delFs

c.26delT

2 papers

NM_000169.3

p.H9fs

c.25_26fs

1 paper

NM_000169.3

p.L8delFs

c.23delA

3 papers

NM_000169.3

p.L8Q

c.23T>A

22 papers

NM_000169.3

p.L10L

c.30G>A

7 papers

NM_000169.3

p.L8L

c.22C>T

1 paper

NM_000169.3

p.N5_E7del3

c.13_20del9

1 paper

NM_000169.3

p.G11R

c.31G>C

1 paper

NM_000169.3

p.G11S

c.31G>A

2 papers

NM_000169.3

p.G11fs

c.31_32fs