RUNX2 c.1171_1172delinsGC ;(p.R391A)

Variant ID: 6-45514647-CG-GC

NM_001024630.3(RUNX2):c.1171_1172delinsGC;(p.R391A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Allosteric regulation of lysosomal enzyme recognition by the cation-independent mannose 6-phosphate receptor.

Communications Biology
Olson, Linda J LJ; Misra, Sandeep K SK; Ishihara, Mayumi M; Battaile, Kevin P KP; Grant, Oliver C OC; Sood, Amika A; Woods, Robert J RJ; Kim, Jung-Ja P JP; Tiemeyer, Michael M; Ren, Gang G; Sharp, Joshua S JS; Dahms, Nancy M NM
Publication Date: 2020-09-09

Variant appearance in text: CCD: R391A
PubMed Link: 32908216
Variant Present in the following documents:
  • Main text
  • 42003_2020_Article_1211.pdf
View BVdb publication page



BET-independent MLV-based Vectors Target Away From Promoters and Regulatory Elements.

Molecular Therapy. Nucleic Acids
El Ashkar, Sara S; De Rijck, Jan J; Demeulemeester, Jonas J; Vets, Sofie S; Madlala, Paradise P; Cermakova, Katerina K; Debyser, Zeger Z; Gijsbers, Rik R
Publication Date: 2014-07-29

Variant appearance in text: CCD: R391A
PubMed Link: 25072693
Variant Present in the following documents:
  • Main text
  • mtna201433a.pdf
View BVdb publication page