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

13 papers

NM_000169.3

p.I239M

c.717A>G

Surrounding Variants

1 paper

NM_000169.3

p.I239insFs

c.716_717insT

11 papers

NM_000169.3

p.I239T

c.716T>C

15 papers

NM_000169.3

p.K240fs

c.718_719fs

4 papers

NM_000169.3

p.K240*

c.718A>T

1 paper

NM_000169.3

p.K240_S241ins11

c.718_722ins33

1 paper

NM_000169.3

p.I239L

c.715A>T

1 paper

NM_000169.3

p.I239L

c.715A>C

1 paper

NM_000169.3

p.S238insFs

c.714dupT

1 paper

NM_000169.3

p.I239fs

c.715_716fs

1 paper

NM_000169.3

p.I239del1

c.715_716delTAT

1 paper

NM_000169.3

p.W236_K240Fs

c.706_719delinsGFs

4 papers

NM_000169.3

p.S238R

c.714T>G