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

1 paper

NM_000169.3

p.V22A

c.65T>C

Surrounding Variants

2 papers

NM_000169.3

p.V22G

c.65T>G

1 paper

NM_000169.3

p.S23A

c.67T>G

1 paper

NM_000169.3

p.L21L

c.63C>G

1 paper

NM_000169.3

p.L21R

c.62T>G

6 papers

NM_000169.3

p.L21P

c.62T>C

2 papers

NM_000169.3

p.L21F

c.61C>T

1 paper

NM_000169.3

p.L21V

c.61C>G

5 papers

NM_000169.3

p.W24G

c.70T>G

11 papers

NM_000169.3

p.W24R

c.70T>C

12 papers

NM_000169.3

p.W24R

c.70T>A

1 paper

NM_000169.3

p.A15_L19delFs

c.45_57del13

15 papers

NM_000169.3

p.W24*

c.71G>A