RUNX2 c.323A>C ;(p.D108A)

Variant ID: 6-45390594-A-C

NM_001024630.3(RUNX2):c.323A>C;(p.D108A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Cancer of Unknown Primary (CUP): genetic evidence for a novel nosological entity? A case report.

Embo Molecular Medicine
Benvenuti, Silvia S; Milan, Melissa M; Geuna, Elena E; Pisacane, Alberto A; Senetta, Rebecca R; Gambardella, Gennaro G; Stella, Giulia M GM; Montemurro, Filippo F; Sapino, Anna A; Boccaccio, Carla C; Comoglio, Paolo M PM
Publication Date: 2020-07-07

Variant appearance in text: RUNX2: D108A
PubMed Link: 32511869
Variant Present in the following documents:
  • EMMM-12-e11756-s005.xlsx, sheet 1
View BVdb publication page



The Desmosomal Cadherin Desmoglein-2 Experiences Mechanical Tension as Demonstrated by a FRET-Based Tension Biosensor Expressed in Living Cells.

Cells
Baddam, Sindora R SR; Arsenovic, Paul T PT; Narayanan, Vani V; Duggan, Nicole R NR; Mayer, Carl R CR; Newman, Shaston T ST; Abutaleb, Dahlia A DA; Mohan, Abhinav A; Kowalczyk, Andrew P AP; Conway, Daniel E DE
Publication Date: 2018-06-26

Variant appearance in text: CCD: D108a
PubMed Link: 29949915
Variant Present in the following documents:
  • Main text
  • cells-07-00066.pdf
View BVdb publication page



Genetic analysis of yeast Yip1p function reveals a requirement for Golgi-localized rab proteins and rab-Guanine nucleotide dissociation inhibitor.

Genetics
Chen, Catherine Z CZ; Calero, Monica M; DeRegis, Carol J CJ; Heidtman, Matthew M; Barlowe, Charles C; Collins, Ruth N RN
Publication Date: 2004-12

Variant appearance in text: CCD: D108A
PubMed Link: 15611160
Variant Present in the following documents:
  • Main text
View BVdb publication page