NF1 c.4430G>C ;(p.R1477T)

Variant ID: 17-29586147-G-C

NM_001042492.2(NF1):c.4430G>C;(p.R1477T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: NF1: R1477T
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



EZH2 inactivation in RAS-driven myeloid neoplasms hyperactivates RAS-signaling and increases MEK inhibitor sensitivity.

Leukemia
Berg, Johannes Lorenz JL; Perfler, Bianca B; Hatzl, Stefan S; Uhl, Barbara B; Reinisch, Andreas A; Pregartner, Gudrun G; Berghold, Andrea A; Penz, Thomas T; Schuster, Michael M; Geissler, Klaus K; Prokesch, Andreas A; Müller-Tidow, Carsten C; Hoefler, Gerald G; Kashofer, Karl K; Wölfler, Albert A; Sill, Heinz H; Caraffini, Veronica V; Zebisch, Armin A
Publication Date: 2021-05

Variant appearance in text: NF1: R1477T
PubMed Link: 33589750
Variant Present in the following documents:
  • 41375_2021_1161_MOESM1_ESM.pdf
View BVdb publication page