RUNX2 c.50_51delinsGG ;(p.F17W)

Variant ID: 6-45296513-TC-GG

NM_001024630.3(RUNX2):c.50_51delinsGG;(p.F17W)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Kinetically competing huntingtin aggregation pathways control amyloid polymorphism and properties.

Biochemistry
Jayaraman, Murali M; Mishra, Rakesh R; Kodali, Ravindra R; Thakur, Ashwani K AK; Koharudin, Leonardus M I LM; Gronenborn, Angela M AM; Wetzel, Ronald R
Publication Date: 2012-04-03

Variant appearance in text: CCD: F17W
PubMed Link: 22432740
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inhibiting the nucleation of amyloid structure in a huntingtin fragment by targeting α-helix-rich oligomeric intermediates.

Journal Of Molecular Biology
Mishra, Rakesh R; Jayaraman, Murali M; Roland, Bartholomew P BP; Landrum, Elizabeth E; Fullam, Timothy T; Kodali, Ravindra R; Thakur, Ashwani K AK; Arduini, Irene I; Wetzel, Ronald R
Publication Date: 2012-02-03

Variant appearance in text: CCD: F17W
PubMed Link: 22178478
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polyglutamine disruption of the huntingtin exon 1 N terminus triggers a complex aggregation mechanism.

Nature Structural & Molecular Biology
Thakur, Ashwani K AK; Jayaraman, Murali M; Mishra, Rakesh R; Thakur, Monika M; Chellgren, Veronique M VM; Byeon, In-Ja L IJ; Anjum, Dalaver H DH; Kodali, Ravindra R; Creamer, Trevor P TP; Conway, James F JF; Gronenborn, Angela M AM; Wetzel, Ronald R
Publication Date: 2009-04

Variant appearance in text: CCD: F17W
PubMed Link: 19270701
Variant Present in the following documents:
  • Main text
  • nihms-92235.pdf
View BVdb publication page