PKP1 c.910C>T ;(p.Q304*)

Variant ID: 1-201286763-C-T

NM_001005337.2(PKP1):c.910C>T;(p.Q304*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Do cell junction protein mutations cause an airway phenotype in mice or humans?

American Journal Of Respiratory Cell And Molecular Biology
Chang, Eugene H EH; Pezzulo, Alejandro A AA; Zabner, Joseph J
Publication Date: 2011-08

Variant appearance in text: PKP1: GLN304TER
PubMed Link: 21297078
Variant Present in the following documents:
  • Main text
View BVdb publication page



The desmosomal plaque proteins of the plakophilin family.

Dermatology Research And Practice
Neuber, Steffen S; Mühmer, Mario M; Wratten, Denise D; Koch, Peter J PJ; Moll, Roland R; Schmidt, Ansgar A
Publication Date: 2010

Variant appearance in text: PKP1: Q304X
PubMed Link: 20585595
Variant Present in the following documents:
  • Main text
  • DRP2010-101452.pdf
View BVdb publication page



Diseases of epidermal keratins and their linker proteins.

Experimental Cell Research
Uitto, Jouni J; Richard, Gabriele G; McGrath, John A JA
Publication Date: 2007-06-10

Variant appearance in text: PKP1: Q304X
PubMed Link: 17531221
Variant Present in the following documents:
  • Main text
View BVdb publication page