RUNX2 c.236_237delinsAC ;(p.A79D)

Variant ID: 6-45390507-CG-AC

NM_001024630.3(RUNX2):c.236_237delinsAC;(p.A79D)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.

Npj Genomic Medicine
Anderson, Corey L CL; Langer, Emma R ER; Routes, Timothy C TC; McWilliams, Seamus F SF; Bereslavskyy, Igor I; Kamp, Timothy J TJ; Eckhardt, Lee L LL
Publication Date: 2021-12-03

Variant appearance in text: CCD: A79D
PubMed Link: 34862408
Variant Present in the following documents:
  • 41525_2021_265_MOESM1_ESM.pdf
View BVdb publication page



Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.

Npj Genomic Medicine
Anderson, Corey L CL; Langer, Emma R ER; Routes, Timothy C TC; McWilliams, Seamus F SF; Bereslavskyy, Igor I; Kamp, Timothy J TJ; Eckhardt, Lee L LL
Publication Date: 2021-12-03

Variant appearance in text: CCD: A79D
PubMed Link: 34862408
Variant Present in the following documents:
  • 41525_2021_265_MOESM1_ESM.pdf
View BVdb publication page



Venous puncture wound hemostasis results in a vaulted thrombus structured by locally nucleated platelet aggregates.

Communications Biology
Rhee, Sung W SW; Pokrovskaya, Irina D ID; Ball, Kelly K KK; Ling, Kenny K; Vedanaparti, Yajnesh Y; Cohen, Joshua J; Cruz, Denzel R D DRD; Zhao, Oliver S OS; Aronova, Maria A MA; Zhang, Guofeng G; Kamykowski, Jeffrey A JA; Leapman, Richard D RD; Storrie, Brian B
Publication Date: 2021-09-16

Variant appearance in text: CCD: A79D
PubMed Link: 34531522
Variant Present in the following documents:
  • Main text
View BVdb publication page



Compensatory mechanisms in resistant Anopheles gambiae AcerKis and KdrKis neurons modulate insecticide-based mosquito control.

Communications Biology
Perrier, Stéphane S; Moreau, Eléonore E; Deshayes, Caroline C; El-Adouzi, Marine M; Goven, Delphine D; Chandre, Fabrice F; Lapied, Bruno B
Publication Date: 2021-06-02

Variant appearance in text: CCD: A79D
PubMed Link: 34079061
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nickel(II) carbonyl, ammonia, and aceto-nitrile complexes supported by a pyridine dipyrrolide pincer ligand.

Acta Crystallographica. Section E, Crystallographic Communications
Dias, H V Rasika HVR; Pramanik, Abhijit A
Publication Date: 2020-11-01

Variant appearance in text: CCD: A79D
PubMed Link: 33209345
Variant Present in the following documents:
  • Main text
View BVdb publication page



Robust, universal, and persistent bud secretion adhesion in horse-chestnut trees.

Scientific Reports
Voigt, Dagmar D; Kim, Jaekang J; Jantschke, Anne A; Varenberg, Michael M
Publication Date: 2020-11-04

Variant appearance in text: CCD: A79D
PubMed Link: 33149168
Variant Present in the following documents:
  • Main text
View BVdb publication page



Unusual Behavior of the Bipolar Molecule 25-Hydroxycholesterol at the Air/Water Interface-Langmuir Monolayer Approach Complemented with Theoretical Calculations.

The Journal Of Physical Chemistry. B
Wnętrzak, Anita A; Chachaj-Brekiesz, Anna A; Kobierski, Jan J; Karwowska, Katarzyna K; Petelska, Aneta D AD; Dynarowicz-Latka, Patrycja P
Publication Date: 2020-02-13

Variant appearance in text: CCD: A79D
PubMed Link: 31972080
Variant Present in the following documents:
  • Main text
View BVdb publication page



Restoration of primary cilia in obese adipose-derived mesenchymal stem cells by inhibiting Aurora A or extracellular signal-regulated kinase.

Stem Cell Research & Therapy
Ritter, Andreas A; Kreis, Nina-Naomi NN; Roth, Susanne S; Friemel, Alexandra A; Jennewein, Lukas L; Eichbaum, Christine C; Solbach, Christine C; Louwen, Frank F; Yuan, Juping J
Publication Date: 2019-08-14

Variant appearance in text: RUNX2: A79D
PubMed Link: 31412932
Variant Present in the following documents:
  • Main text
View BVdb publication page



The nematode resistance allele at the rhg1 locus alters the proteome and primary metabolism of soybean roots.

Plant Physiology
Afzal, Ahmed J AJ; Natarajan, Aparna A; Saini, Navinder N; Iqbal, M Javed MJ; Geisler, Matt M; El Shemy, Hany A HA; Mungur, Rajsree R; Willmitzer, Lothar L; Lightfoot, David A DA
Publication Date: 2009-11

Variant appearance in text: CCD: A79D
PubMed Link: 19429603
Variant Present in the following documents:
  • Main text
View BVdb publication page