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.A368P

c.1102G>C

Surrounding Variants

4 papers

NM_000169.3

p.Y365_I367ins1

c.1093_1101dup9

7 papers

NM_000169.3

p.A368Fs

c.1102delinsTTATACFs

19 papers

NM_000169.3

p.A368T

c.1102G>A

6 papers

NM_000169.3

p.A368fs

c.1102_1103fs

2 papers

NM_000169.3

p.I367insFs

c.1100dupT

2 papers

NM_000169.3

p.T366_I367delFs

c.1096_1100del5

3 papers

NM_000169.3

p.G361_I367delFs

c.1081_1100del20

1 paper

NM_000169.3

p.A368delFs

c.1102delC

1 paper

NM_000169.3

p.S364_A368delFs

c.1090_1103del14

1 paper

NM_000169.3

p.I354_A368del15

c.1060_1103del45

1 paper

NM_000169.3

p.T366delFs

c.1098delG

2 papers

NM_000169.3

p.P362_T366delFs

c.1086_1098del13