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

4 papers

NM_000169.3

p.S405R

c.1215T>A

Surrounding Variants

4 papers

NM_000169.3

p.S405R

c.1215T>G

17 papers

NM_000169.3

p.R404del1

c.1210_1211delTCT

1 paper

NM_000169.3

p.S405delFs

c.1213delT

1 paper

NM_000169.3

p.S405fs

c.1213_1214fs

1 paper

NM_000169.3

p.H406R

c.1217A>G

4 papers

NM_000169.3

p.S405R

c.1213A>C

1 paper

NM_000169.3

p.S405_H406delFs

c.1213_1217del5

2 papers

NM_000169.3

p.R404K

c.1211G>A

1 paper

NM_000169.3

p.I407V

c.1219A>G

2 papers

NM_000169.3

p.I407R

c.1220T>G

9 papers

NM_000169.3

p.I407K

c.1220T>A

2 papers

NM_000169.3

p.L403insFs

c.1208dupT