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.*430E

c.1288T>G

Surrounding Variants

1 paper

NM_000169.3

p.D427_L428insFs

c.1281_1282ins4

2 papers

NM_000169.3

p.*430Q

c.1288T>C

2 papers

NM_000169.3

p.L428_L429delFs

c.1284_1287del4

4 papers

NM_000169.3

p.L429_*430insFs

c.1287_1288dupTT

1 paper

NM_000169.3

p.L429P

c.1286T>C

2 papers

NM_000169.3

p.L429delFs

c.1285delG

1 paper

NM_000169.3

p.*430fs

c.1288_1289fs

2 papers

NM_000169.3

p.L429fs

c.1285_1286fs

1 paper

NM_000169.3

p.L429F

c.1285C>T

1 paper

NM_000169.3

p.L428fs

c.1282_1283fs

2 papers

NM_000169.3

p.L428fs

c.1282_1283fs

1 paper

NM_000169.3

p.D427E

c.1281C>G