PRNP c.298_300delinsTAA ;(p.N100*)

Variant ID: 20-4680164-AAC-TAA

NM_000311.3(PRNP):c.298_300delinsTAA;(p.N100*)

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:

Cyclin-dependent kinase 5 phosphorylation of familial prion protein mutants exacerbates conversion into amyloid structure.

The Journal Of Biological Chemistry
Rouget, Raphaël R; Sharma, Gyanesh G; LeBlanc, Andréa C AC
Publication Date: 2015-02-27

Variant appearance in text: PRNP: N100X
PubMed Link: 25572400
Variant Present in the following documents:
  • Main text
View BVdb publication page