NF1 c.6535C>T ;(p.R2179C)

Variant ID: 17-29664493-C-T

NM_001042492.2(NF1):c.6535C>T;(p.R2179C)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: NF1: Arg2179Cys
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Analysis of Tissue and Circulating Tumor DNA by Next-Generation Sequencing of Hepatocellular Carcinoma: Implications for Targeted Therapeutics.

Molecular Cancer Therapeutics
Ikeda, Sadakatsu S; Lim, Jordan S JS; Kurzrock, Razelle R
Publication Date: 2018-05

Variant appearance in text: NF1: R2179C
PubMed Link: 29483209
Variant Present in the following documents:
  • Main text
View BVdb publication page



NF1 Mutations Are Common in Desmoplastic Melanoma.

The American Journal Of Surgical Pathology
Wiesner, Thomas T; Kiuru, Maija M; Scott, Sasinya N SN; Arcila, Maria M; Halpern, Allan C AC; Hollmann, Travis T; Berger, Michael F MF; Busam, Klaus J KJ
Publication Date: 2015-10

Variant appearance in text: NF1: R2179C
PubMed Link: 26076063
Variant Present in the following documents:
  • Main text
View BVdb publication page



Desmoplastic melanoma with sarcomatoid dedifferentiation.

The American Journal Of Surgical Pathology
Kiuru, Maija M; McDermott, Gregory G; Berger, Michael M; Halpern, Allan C AC; Busam, Klaus J KJ
Publication Date: 2014-06

Variant appearance in text: NF1: R2179C
PubMed Link: 24618614
Variant Present in the following documents:
  • Main text
View BVdb publication page