APP c.503A>G ;(p.Y168C)

Variant ID: 21-27423475-T-C

NM_000484.3(APP):c.503A>G;(p.Y168C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Deglycosylation Increases the Aggregation and Angiogenic Properties of Mutant Tissue Inhibitor of Metalloproteinase 3 Protein: Implications for Sorsby Fundus Dystrophy.

International Journal Of Molecular Sciences
Qi, Jian Hua JH; Anand-Apte, Bela B
Publication Date: 2022-11-17

Variant appearance in text: APP: Tyr168Cys
PubMed Link: 36430707
Variant Present in the following documents:
  • ijms-23-14231.pdf
View BVdb publication page



Tissue Inhibitor of Metalloproteases 3 (TIMP-3): In Vivo Analysis Underpins Its Role as a Master Regulator of Ectodomain Shedding.

Membranes
Spanò, Donatella Pia DP; Scilabra, Simone Dario SD
Publication Date: 2022-02-11

Variant appearance in text: APP: Y168C
PubMed Link: 35207132
Variant Present in the following documents:
  • Main text
  • membranes-12-00211.pdf
View BVdb publication page