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

9 papers

NM_000169.3

p.V316I

c.946G>A

Surrounding Variants

1 paper

NM_000169.3

p.V316L

c.946G>T

1 paper

NM_000169.3

p.V316L

c.946G>C

5 papers

NM_000169.3

p.V316G

c.947T>G

3 papers

NM_000169.3

p.V316A

c.947T>C

11 papers

NM_000169.3

p.V316E

c.947T>A

5 papers

NM_000169.3

p.V316delFs

c.946delC

1 paper

NM_000169.3

p.V316insFs

c.947dupT

1 paper

NM_000169.3

p.V316fs

c.946_947fs

2 papers

NM_000169.3

p.I317fs

c.949_950fs

2 papers

NM_000169.3

p.D315N

c.943G>A

1 paper

NM_000169.3

p.I317L

c.949A>C

5 papers

NM_000169.3

p.I317S

c.950T>G