RUNX2 c.659C>T ;(p.T220I)

Variant ID: 6-45405762-C-T

NM_001024630.3(RUNX2):c.659C>T;(p.T220I)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
Publication Date: 2018-09-10

Variant appearance in text: RUNX2: 659C>T; T220I
PubMed Link: 30202019
Variant Present in the following documents:
  • 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Natural Variation in Arabidopsis Cvi-0 Accession Reveals an Important Role of MPK12 in Guard Cell CO2 Signaling.

Plos Biology
Jakobson, Liina L; Vaahtera, Lauri L; Tõldsepp, Kadri K; Nuhkat, Maris M; Wang, Cun C; Wang, Yuh-Shuh YS; Hõrak, Hanna H; Valk, Ervin E; Pechter, Priit P; Sindarovska, Yana Y; Tang, Jing J; Xiao, Chuanlei C; Xu, Yang Y; Gerst Talas, Ulvi U; García-Sosa, Alfonso T AT; Kangasjärvi, Saijaliisa S; Maran, Uko U; Remm, Maido M; Roelfsema, M Rob G MR; Hu, Honghong H; Kangasjärvi, Jaakko J; Loog, Mart M; Schroeder, Julian I JI; Kollist, Hannes H; Brosché, Mikael M
Publication Date: 2016-12

Variant appearance in text: CCD: T220I
PubMed Link: 27923039
Variant Present in the following documents:
  • Main text
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: RUNX2: T220I
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



The genetic basis for inherited forms of sinoatrial dysfunction and atrioventricular node dysfunction.

Journal Of Interventional Cardiac Electrophysiology : An International Journal Of Arrhythmias And Pacing
Milanesi, Raffaella R; Bucchi, Annalisa A; Baruscotti, Mirko M
Publication Date: 2015-08

Variant appearance in text: CCD: T220I
PubMed Link: 25863800
Variant Present in the following documents:
  • Main text
  • 10840_2015_Article_9998.pdf
View BVdb publication page