RUNX2 c.626A>G ;(p.Q209R)

Variant ID: 6-45405729-A-G

NM_001024630.3(RUNX2):c.626A>G;(p.Q209R)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Molecular Evolution of Attachment Glycoprotein (G) and Fusion Protein (F) Genes of Respiratory Syncytial Virus ON1 and BA9 Strains in Xiamen, China.

Microbiology Spectrum
Sun, Yong-Peng YP; Lei, Si-Yu SY; Wang, Ying-Bin YB; Wang, Yi-Zhen YZ; Qiang, Hong-Sheng HS; Yin, Yi-Fan YF; Jiang, Ze-Min ZM; Zhu, Min M; Chen, Xiao-Li XL; Ye, Hui-Ming HM; Zheng, Zi-Zheng ZZ; Xia, Ning-Shao NS
Publication Date: 2022-04-27

Variant appearance in text: CCD: Q209R
PubMed Link: 35311585
Variant Present in the following documents:
  • Main text
  • spectrum.02083-21.pdf
View BVdb publication page



Distinct patterns of within-host virus populations between two subgroups of human respiratory syncytial virus.

Nature Communications
Lin, Gu-Lung GL; Drysdale, Simon B SB; Snape, Matthew D MD; O'Connor, Daniel D; Brown, Anthony A; MacIntyre-Cockett, George G; Mellado-Gomez, Esther E; de Cesare, Mariateresa M; Bonsall, David D; Ansari, M Azim MA; Öner, Deniz D; Aerssens, Jeroen J; Butler, Christopher C; Bont, Louis L; Openshaw, Peter P; Martinón-Torres, Federico F; Nair, Harish H; Bowden, Rory R; , ; Golubchik, Tanya T; Pollard, Andrew J AJ
Publication Date: 2021-08-26

Variant appearance in text: CCD: Q209R
PubMed Link: 34446722
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_25265.pdf
View BVdb publication page



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: 626A>G
PubMed Link: 30095610
Variant Present in the following documents:
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: CCD: Q209R
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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: Q209R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Core binding factor β of osteoblasts maintains cortical bone mass via stabilization of Runx2 in mice.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research
Lim, Kyung-Eun KE; Park, Na-Rae NR; Che, Xiangguo X; Han, Min-Su MS; Jeong, Jae-Hwan JH; Kim, Shin-Yoon SY; Park, Clara Yongjoo CY; Akiyama, Haruhiko H; Kim, Jung-Eun JE; Ryoo, Hyun-Mo HM; Stein, Janet L JL; Lian, Jane B JB; Stein, Gary S GS; Choi, Je-Yong JY
Publication Date: 2015-04

Variant appearance in text: CCD: Q209R
PubMed Link: 25358268
Variant Present in the following documents:
  • Main text
View BVdb publication page