F8 c.1587A>T ;(p.K529N)

Variant ID: X-154185397-T-A

NM_000132.3(F8):c.1587A>T;(p.K529N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Scientific Reports
Marín, Òscar Ò; Aguirre, Josu J; de la Cruz, Xavier X
Publication Date: 2019-07-02

Variant appearance in text: F8: K529N
PubMed Link: 31267011
Variant Present in the following documents:
  • 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Activation of a paramyxovirus fusion protein is modulated by inside-out signaling from the cytoplasmic tail.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Waning, David L DL; Russell, Charles J CJ; Jardetzky, Theodore S TS; Lamb, Robert A RA
Publication Date: 2004-06-22

Variant appearance in text: HEMA: K529N
PubMed Link: 15197264
Variant Present in the following documents:
  • Main text
View BVdb publication page