RUNX2 c.652A>G ;(p.K218E)

Variant ID: 6-45405755-A-G

NM_001024630.3(RUNX2):c.652A>G;(p.K218E)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Identification of a novel mutation of RUNX2 in a family with supernumerary teeth and craniofacial dysplasia by whole-exome sequencing: A case report and literature review.

Medicine
Ma, Dan D; Wang, Xuxia X; Guo, Jun J; Zhang, Jun J; Cai, Tao T
Publication Date: 2018-08

Variant appearance in text: RUNX2: 652A>G
PubMed Link: 30095610
Variant Present in the following documents:
View BVdb publication page



The E3 ubiquitin ligase WWP2 facilitates RUNX2 protein transactivation in a mono-ubiquitination manner during osteogenic differentiation.

The Journal Of Biological Chemistry
Zhu, Wei W; He, Xinyu X; Hua, Yue Y; Li, Qian Q; Wang, Jiyong J; Gan, Xiaoqing X
Publication Date: 2017-07-07

Variant appearance in text: CCD: K218E
PubMed Link: 28500134
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structures of partition protein ParA with nonspecific DNA and ParB effector reveal molecular insights into principles governing Walker-box DNA segregation.

Genes & Development
Zhang, Hengshan H; Schumacher, Maria A MA
Publication Date: 2017-03-01

Variant appearance in text: CCD: K218E
PubMed Link: 28373206
Variant Present in the following documents:
  • Main text
  • 481.pdf
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: K218E
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page