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

7 papers

NM_000169.3

p.Q57L

c.170A>T

Surrounding Variants

5 papers

NM_000169.3

p.Q57R

c.170A>G

1 paper

NM_000169.3

p.C56_Q57delFs

c.168_169delGG

1 paper

NM_000169.3

p.C56_Q57delins

c.167_170delinsCCCT

4 papers

NM_000169.3

p.Q57H

c.171G>C

1 paper

NM_000169.3

p.D55_Q57del0

c.165_170del6

9 papers

NM_000169.3

p.Q57*

c.169C>T

1 paper

NM_000169.3

p.Q57E

c.169C>G

2 papers

NM_000169.3

p.E58Q

c.172G>C

1 paper

NM_000169.3

p.E58K

c.172G>A

1 paper

NM_000169.3

p.C56W

c.168C>G

8 papers

NM_000169.3

p.C56*

c.168C>A

8 papers

NM_000169.3

p.C56F

c.167G>T