Variant ID: 1-201286763-C-T


This variant was identified in 3 publications


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

American Journal Of Respiratory Cell And Molecular Biology
EH Chang, AA Pezzulo, J Zabner
Publication Date: 2011-08

Variant appearance in text: PKP1: GLN304TER
PMID: 21297078
View BVdb publication page

The desmosomal plaque proteins of the plakophilin family.

Dermatology Research And Practice
S Neuber, M M├╝hmer, D Wratten, PJ Koch, R Moll, A Schmidt
Publication Date: 2010

Variant appearance in text: PKP1: Q304X
PMID: 20585595
View BVdb publication page

Diseases of epidermal keratins and their linker proteins.

Experimental Cell Research
J Uitto, G Richard, JA McGrath
Publication Date: 2007-06-10

Variant appearance in text: PKP1: Q304X
PMID: 17531221
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000263946.3 c.910C>T p.Gln304* stop_gained 5/15 -
ENST00000352845.3 c.910C>T p.Gln304* stop_gained 5/14 -
ENST00000367324.3 c.910C>T p.Gln304* stop_gained 5/14 -
ENST00000475988.1 n.252C>T - non_coding_transcript_exon_variant 3/5 -
NM_000299.3 c.910C>T p.Gln304* stop_gained 5/15 -
NM_001005337.3 c.910C>T p.Gln304* stop_gained 5/14 -