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.P98insFs

c.292_293insC

Surrounding Variants

8 papers

NM_000169.3

p.Q99*

c.295C>T

3 papers

NM_000169.3

p.Q99fs

c.295_296fs

2 papers

NM_000169.3

p.R100*

c.298A>T

1 paper

NM_000169.3

p.R100G

c.298A>G

16 papers

NM_000169.3

p.R100T

c.299G>C

15 papers

NM_000169.3

p.R100K

c.299G>A

5 papers

NM_000169.3

p.Q99delFs

c.296_297delTT

1 paper

NM_000169.3

p.P98L

c.293C>T

1 paper

NM_000169.3

p.A97_P98insFs

c.291_292insC

1 paper

NM_000169.3

p.A97delFs

c.290delG

1 paper

NM_000169.3

p.D101insFs

c.301_302insC

1 paper

NM_000169.3

p.D101H

c.301G>C