PKP1 c.213T>G ;(p.Y71*)

Variant ID: 1-201263080-T-G

NM_001005337.2(PKP1):c.213T>G;(p.Y71*)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

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: Y71X
PubMed Link: 20585595
Variant Present in the following documents:
  • Main text
  • DRP2010-101452.pdf
View BVdb publication page