NF1 c.4607T>C ;(p.F1536S)

Variant ID: 17-29588758-T-C

NM_001042492.2(NF1):c.4607T>C;(p.F1536S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: F1536S
PubMed Link: 33589750
Variant Present in the following documents:
  • 41375_2021_1161_MOESM1_ESM.pdf
View BVdb publication page



Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications
Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2020-05-05

Variant appearance in text: NF1: 4607T>C; F1536S
PubMed Link: 32371905
Variant Present in the following documents:
  • 41467_2020_16067_MOESM8_ESM.xlsx, sheet 1
  • 41467_2020_16067_MOESM9_ESM.xlsx, sheet 1
  • 41467_2020_16067_MOESM19_ESM.xlsx, sheet 1
  • 41467_2020_16067_MOESM12_ESM.xlsx, sheet 6
  • 41467_2020_16067_MOESM12_ESM.xlsx, sheet 5
View BVdb publication page