RUNX2 c.80T>C ;(p.F27S)

Variant ID: 6-45390351-T-C

NM_001024630.3(RUNX2):c.80T>C;(p.F27S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


α-SNAP interferes with the zippering of the SNARE protein membrane fusion machinery.

The Journal Of Biological Chemistry
Park, Yongsoo Y; Vennekate, Wensi W; Yavuz, Halenur H; Preobraschenski, Julia J; Hernandez, Javier M JM; Riedel, Dietmar D; Walla, Peter Jomo PJ; Jahn, Reinhard R
Publication Date: 2014-06-06

Variant appearance in text: CCD: F27S
PubMed Link: 24778182
Variant Present in the following documents:
  • Main text
View BVdb publication page



An essential and NSF independent role for α-SNAP in store-operated calcium entry.

Elife
Miao, Yong Y; Miner, Cathrine C; Zhang, Lei L; Hanson, Phyllis I PI; Dani, Adish A; Vig, Monika M
Publication Date: 2013-07-16

Variant appearance in text: CCD: F27S
PubMed Link: 23878724
Variant Present in the following documents:
  • Main text
  • elife00802.pdf
View BVdb publication page