KMT2D c.8371_8372delinsGC ;(p.L2791A)

Variant ID: 12-49432767-AG-GC

NM_003482.3(KMT2D):c.8371_8372delinsGC;(p.L2791A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Transcription Factor RBPJL Is Able to Repress Notch Target Gene Expression but Is Non-Responsive to Notch Activation.

Cancers
Pan, Leiling L; Hoffmeister, Philipp P; Turkiewicz, Aleksandra A; Huynh, N N Duyen NND; Große-Berkenbusch, Andreas A; Knippschild, Uwe U; Gebhardt, J Christof M JCM; Baumann, Bernd B; Borggrefe, Tilman T; Oswald, Franz F
Publication Date: 2021-10-08

Variant appearance in text: KMT2D: L2791A
PubMed Link: 34638511
Variant Present in the following documents:
  • cancers-13-05027.pdf
View BVdb publication page



Structural and Functional Studies of the RBPJ-SHARP Complex Reveal a Conserved Corepressor Binding Site.

Cell Reports
Yuan, Zhenyu Z; VanderWielen, Bradley D BD; Giaimo, Benedetto Daniele BD; Pan, Leiling L; Collins, Courtney E CE; Turkiewicz, Aleksandra A; Hein, Kerstin K; Oswald, Franz F; Borggrefe, Tilman T; Kovall, Rhett A RA
Publication Date: 2019-01-22

Variant appearance in text: KMT2D: L2791A
PubMed Link: 30673607
Variant Present in the following documents:
  • Main text
  • NIHMS1519366-supplement-2.pdf
  • nihms-1519366.pdf
View BVdb publication page