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

2 papers

NM_000169.3

p.P362_T366delFs

c.1085_1098del14

Surrounding Variants

1 paper

NM_000169.3

p.T366delFs

c.1098delG

2 papers

NM_000169.3

p.P362_T366delFs

c.1086_1098del13

1 paper

NM_000169.3

p.T366fs

c.1096_1097fs

1 paper

NM_000169.3

p.T366I

c.1097C>T

1 paper

NM_000169.3

p.T366S

c.1097C>G

2 papers

NM_000169.3

p.I367insFs

c.1100dupT

1 paper

NM_000169.3

p.T366N

c.1097C>A

2 papers

NM_000169.3

p.T366_I367delFs

c.1096_1100del5

3 papers

NM_000169.3

p.G361_I367delFs

c.1081_1100del20

4 papers

NM_000169.3

p.Y365_I367ins1

c.1093_1101dup9

1 paper

NM_000169.3

p.A368P

c.1102G>C

7 papers

NM_000169.3

p.A368Fs

c.1102delinsTTATACFs