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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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