RUNX2 c.1235T>A ;(p.M412K)

Variant ID: 6-45514711-T-A

NM_001024630.3(RUNX2):c.1235T>A;(p.M412K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Allele-specific gene editing prevents deafness in a model of dominant progressive hearing loss.

Nature Medicine
György, Bence B; Nist-Lund, Carl C; Pan, Bifeng B; Asai, Yukako Y; Karavitaki, K Domenica KD; Kleinstiver, Benjamin P BP; Garcia, Sara P SP; Zaborowski, Mikołaj P MP; Solanes, Paola P; Spataro, Sofia S; Schneider, Bernard L BL; Joung, J Keith JK; Géléoc, Gwenaëlle S G GSG; Holt, Jeffrey R JR; Corey, David P DP
Publication Date: 2019-07

Variant appearance in text: CCD: M412K
PubMed Link: 31270503
Variant Present in the following documents:
  • Main text
  • nihms-1530254.pdf
View BVdb publication page



TMC1 Forms the Pore of Mechanosensory Transduction Channels in Vertebrate Inner Ear Hair Cells.

Neuron
Pan, Bifeng B; Akyuz, Nurunisa N; Liu, Xiao-Ping XP; Asai, Yukako Y; Nist-Lund, Carl C; Kurima, Kiyoto K; Derfler, Bruce H BH; György, Bence B; Limapichat, Walrati W; Walujkar, Sanket S; Wimalasena, Lahiru N LN; Sotomayor, Marcos M; Corey, David P DP; Holt, Jeffrey R JR
Publication Date: 2018-08-22

Variant appearance in text: CCD: M412K
PubMed Link: 30138589
Variant Present in the following documents:
  • Main text
View BVdb publication page