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

2 papers

NM_000169.3

p.S241fs

c.721_722fs

Surrounding Variants

1 paper

NM_000169.3

p.S241C

c.721A>T

1 paper

NM_000169.3

p.S241G

c.721A>G

3 papers

NM_000169.3

p.K240N

c.720G>T

1 paper

NM_000169.3

p.K240fs

c.718_719fs

1 paper

NM_000169.3

p.K240insFs

c.719dupA

4 papers

NM_000169.3

p.K240N

c.720G>C

2 papers

NM_000169.3

p.K240delFs

c.718delT

43 papers

NM_000169.3

p.K240delFs

c.718_719delTT

1 paper

NM_000169.3

p.W236_K240delFs

c.706_719del14

1 paper

NM_000169.3

p.I239del1

c.715_716delTAT

1 paper

NM_000169.3

p.W236_K240Fs

c.706_719delinsGFs

15 papers

NM_000169.3

p.K240fs

c.718_719fs