RUNX2 c.350A>C ;(p.D117A)

Variant ID: 6-45390621-A-C

NM_001024630.3(RUNX2):c.350A>C;(p.D117A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: RUNX2: 350A>C
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s7.xlsx, sheet 9
View BVdb publication page



Insight into the flagella type III export revealed by the complex structure of the type III ATPase and its regulator.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Imada, Katsumi K; Minamino, Tohru T; Uchida, Yumiko Y; Kinoshita, Miki M; Namba, Keiichi K
Publication Date: 2016-03-29

Variant appearance in text: CCD: D117A
PubMed Link: 26984495
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure of a RING E3 ligase and ubiquitin-loaded E2 primed for catalysis.

Nature
Plechanovová, Anna A; Jaffray, Ellis G EG; Tatham, Michael H MH; Naismith, James H JH; Hay, Ronald T RT
Publication Date: 2012-09-06

Variant appearance in text: CCD: D117A
PubMed Link: 22842904
Variant Present in the following documents:
  • Main text
  • ukmss-49192.pdf
View BVdb publication page