RUNX2 c.74G>A ;(p.R25Q)

Variant ID: 6-45390345-G-A

NM_001024630.3(RUNX2):c.74G>A;(p.R25Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Structural analysis of the bright monomeric yellow-green fluorescent protein mNeonGreen obtained by directed evolution.

Acta Crystallographica. Section D, Structural Biology
Clavel, Damien D; Gotthard, Guillaume G; von Stetten, David D; De Sanctis, Daniele D; Pasquier, Hélène H; Lambert, Gerard G GG; Shaner, Nathan C NC; Royant, Antoine A
Publication Date: 2016-12-01

Variant appearance in text: CCD: R25Q
PubMed Link: 27917830
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human disease-causing mutations disrupt an N-C-terminal interaction and channel function of bestrophin 1.

The Journal Of Biological Chemistry
Qu, Zhiqiang Z; Cheng, Wei W; Cui, Yuanyuan Y; Cui, Yuanyuan Y; Zheng, Jie J
Publication Date: 2009-06-12

Variant appearance in text: CCD: R25Q
PubMed Link: 19372599
Variant Present in the following documents:
  • Main text
View BVdb publication page