GLA c.848A>C ;(p.Q283P)

Variant ID: X-100653509-T-G

NM_000169.2(GLA):c.848A>C;(p.Q283P)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.

International Journal Of Molecular Sciences
Lukas, Jan J; Cimmaruta, Chiara C; Liguori, Ludovica L; Pantoom, Supansa S; Iwanov, Katharina K; Petters, Janine J; Hund, Christina C; Bunschkowski, Maik M; Hermann, Andreas A; Cubellis, Maria Vittoria MV; Rolfs, Arndt A
Publication Date: 2020-01-31

Variant appearance in text: GLA: 848A>C; Q283P
PubMed Link: 32023956
Variant Present in the following documents:
  • Main text
  • ijms-21-00956.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: GLA: Q283P
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells.

Journal Of Lipid Research
Kaneski, Christine R CR; Schiffmann, Raphael R; Brady, Roscoe O RO; Murray, Gary J GJ
Publication Date: 2010-09

Variant appearance in text: GLA: Q283P
PubMed Link: 20526001
Variant Present in the following documents:
  • Main text
View BVdb publication page