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

3 papers

NM_000169.3

p.S65Splc

c.194+2T>C

Surrounding Variants

1 paper

NM_000169.3

p.S65Splc

c.194+2T>G

1 paper

NM_000169.3

p.S65Splc

c.194+1G>T

2 papers

NM_000169.3

p.S65Splc

c.194+1G>A

1 paper

NM_000169.3

p.S65I

c.194G>T

7 papers

NM_000169.3

p.S65T

c.194G>C

1 paper

NM_000169.3

p.S65N

c.194G>A

1 paper

NM_000169.3

p.S65fs

c.193_194fs

1 paper

NM_000169.3

p.I64I

c.192C>T

2 papers

NM_000169.3

p.I64F

c.190A>T

1 paper

NM_000169.3

p.S62_C63delFs

c.185_188del4

1 paper

NM_000169.3

p.D61_C63del0

c.183_188del6

6 papers

NM_000169.3

p.C63S

c.188G>C