PC c.46A>C ;(p.I16L)

Variant ID: 11-66639585-T-G

NM_001040716.1(PC):c.46A>C;(p.I16L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Protein-Engineered Coagulation Factors for Hemophilia Gene Therapy.

Molecular Therapy. Methods & Clinical Development
Samelson-Jones, Benjamin J BJ; Arruda, Valder R VR
Publication Date: 2019-03-15

Variant appearance in text: PC: I16L
PubMed Link: 30705923
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Engineered factor Xa variants retain procoagulant activity independent of direct factor Xa inhibitors.

Nature Communications
Verhoef, Daniƫl D; Visscher, Koen M KM; Vosmeer, C Ruben CR; Cheung, Ka Lei KL; Reitsma, Pieter H PH; Geerke, Daan P DP; Bos, Mettine H A MHA
Publication Date: 2017-09-13

Variant appearance in text: PC: I16L
PubMed Link: 28904343
Variant Present in the following documents:
  • Main text
  • 41467_2017_Article_647.pdf
View BVdb publication page



Zymogen-like factor Xa variants restore thrombin generation and effectively bypass the intrinsic pathway in vitro.

Blood
Bunce, Matthew W MW; Toso, Raffaella R; Camire, Rodney M RM
Publication Date: 2011-01-06

Variant appearance in text: PC: I16L
PubMed Link: 20864578
Variant Present in the following documents:
  • Main text
View BVdb publication page