RUNX2 c.1045_1046delinsGC ;(p.F349A)

Variant ID: 6-45512977-TT-GC

NM_001024630.3(RUNX2):c.1045_1046delinsGC;(p.F349A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Synaptotagmin 1 oligomers clamp and regulate different modes of neurotransmitter release.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Tagliatti, Erica E; Bello, Oscar D OD; Mendonça, Philipe R F PRF; Kotzadimitriou, Dimitrios D; Nicholson, Elizabeth E; Coleman, Jeff J; Timofeeva, Yulia Y; Rothman, James E JE; Krishnakumar, Shyam S SS; Volynski, Kirill E KE
Publication Date: 2020-02-18

Variant appearance in text: CCD: F349A
PubMed Link: 32015138
Variant Present in the following documents:
  • pnas.201920403.pdf
View BVdb publication page



Synaptotagmin oligomerization is essential for calcium control of regulated exocytosis.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Bello, Oscar D OD; Jouannot, Ouardane O; Chaudhuri, Arunima A; Stroeva, Ekaterina E; Coleman, Jeff J; Volynski, Kirill E KE; Rothman, James E JE; Krishnakumar, Shyam S SS
Publication Date: 2018-08-07

Variant appearance in text: CCD: F349A
PubMed Link: 30038018
Variant Present in the following documents:
  • Main text
View BVdb publication page