RUNX2 c.688_689delinsGC ;(p.H230A)

Variant ID: 6-45459680-CA-GC

NM_001024630.3(RUNX2):c.688_689delinsGC;(p.H230A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Dissection of affinity captured LINE-1 macromolecular complexes.

Elife
Taylor, Martin S MS; Altukhov, Ilya I; Molloy, Kelly R KR; Mita, Paolo P; Jiang, Hua H; Adney, Emily M EM; Wudzinska, Aleksandra A; Badri, Sana S; Ischenko, Dmitry D; Eng, George G; Burns, Kathleen H KH; Fenyƶ, David D; Chait, Brian T BT; Alexeev, Dmitry D; Rout, Michael P MP; Boeke, Jef D JD; LaCava, John J
Publication Date: 2018-01-08

Variant appearance in text: CCD: H230A
PubMed Link: 29309035
Variant Present in the following documents:
  • Main text
  • elife-30094.pdf
View BVdb publication page



The human LINE-1 retrotransposon creates DNA double-strand breaks.

Journal Of Molecular Biology
Gasior, Stephen L SL; Wakeman, Timothy P TP; Xu, Bo B; Deininger, Prescott L PL
Publication Date: 2006-04-14

Variant appearance in text: CCD: H230A
PubMed Link: 16490214
Variant Present in the following documents:
  • Main text
View BVdb publication page