Variant ID: 1-201263080-T-G

NM_000299.3(PKP1):c.213T>G;(p.Tyr71*)

This variant was identified in 1 publication



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

Publications:

The desmosomal plaque proteins of the plakophilin family.

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

Variant appearance in text: PKP1: Y71X
PMID: 20585595
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000263946.3 c.213T>G p.Tyr71* stop_gained 2/15 -
ENST00000352845.3 c.213T>G p.Tyr71* stop_gained 2/14 -
ENST00000367324.3 c.213T>G p.Tyr71* stop_gained 2/14 -
NM_000299.3 c.213T>G p.Tyr71* stop_gained 2/15 -
NM_001005337.3 c.213T>G p.Tyr71* stop_gained 2/14 -