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.S405fs

c.1213_1214fs

Surrounding Variants

4 papers

NM_000169.3

p.S405R

c.1213A>C

1 paper

NM_000169.3

p.S405delFs

c.1213delT

4 papers

NM_000169.3

p.S405R

c.1215T>G

4 papers

NM_000169.3

p.S405R

c.1215T>A

17 papers

NM_000169.3

p.R404del1

c.1210_1211delTCT

2 papers

NM_000169.3

p.R404K

c.1211G>A

1 paper

NM_000169.3

p.H406R

c.1217A>G

2 papers

NM_000169.3

p.L403insFs

c.1208dupT

2 papers

NM_000169.3

p.F396_L403ins2

c.1188_1208dup21

1 paper

NM_000169.3

p.L403delFs

c.1208delA

3 papers

NM_000169.3

p.L403*

c.1208T>G

22 papers

NM_000169.3

p.L403S

c.1208T>C