NF1 c.2374C>T ;(p.L792F)

Variant ID: 17-29554589-C-T

NM_001042492.2(NF1):c.2374C>T;(p.L792F)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Targeted Sequencing of Plasma-Derived vs. Urinary cfDNA from Patients with Triple-Negative Breast Cancer.

Cancers
Herzog, Henrike H; Dogan, Senol S; Aktas, Bahriye B; Nel, Ivonne I
Publication Date: 2022-08-24

Variant appearance in text: NF1: L792F
PubMed Link: 36077638
Variant Present in the following documents:
  • Main text
  • cancers-14-04101.pdf
View BVdb publication page



Molecular Genetic Profile of 300 Japanese Patients with Diffuse Gliomas Using a Glioma-tailored Gene Panel.

Neurologia Medico-Chirurgica
Higa, Nayuta N; Akahane, Toshiaki T; Yokoyama, Seiya S; Yonezawa, Hajime H; Uchida, Hiroyuki H; Fujio, Shingo S; Kirishima, Mari M; Takigawa, Kosuke K; Hata, Nobuhiro N; Toh, Keita K; Yamamoto, Junkoh J; Hanaya, Ryosuke R; Tanimoto, Akihide A; Yoshimoto, Koji K
Publication Date: 2022-09-15

Variant appearance in text: NF1: L792F
PubMed Link: 36031351
Variant Present in the following documents:
  • 1349-8029-62-0391-s003.pdf
  • 1349-8029-62-0391-s001.pdf
View BVdb publication page



Molecular Targets in Lung Cancer: Study of the Evolution of Biomarkers Associated with Treatment with Tyrosine Kinase Inhibitors-Has NF1 Tumor Suppressor a Key Role in Acquired Resistance?

Cancers
Alen, Begoña O BO; Estévez-Pérez, Lara S LS; Hermida-Romero, María Teresa MT; Reguera-Arias, Ana A; García-Campelo, Rosario R; de la Torre-Bravos, Mercedes M; Concha, Ángel Á
Publication Date: 2022-07-07

Variant appearance in text: NF1: 2374C>T; L792F
PubMed Link: 35884384
Variant Present in the following documents:
  • Main text
  • cancers-14-03323.pdf
View BVdb publication page



Phase II trial of nivolumab monotherapy and biomarker screening in patients with chemo-refractory germ cell tumors.

International Journal Of Urology : Official Journal Of The Japanese Urological Association
Kawahara, Takashi T; Kawai, Koji K; Kojima, Takahiro T; Nagumo, Yoshiyuki Y; Sakka, Shotarou S; Kandori, Shuya S; Negoro, Hiromitsu H; Mathis, Bryan J BJ; Maruo, Kazushi K; Miura, Koji K; Sakamoto, Noriaki N; Shinohara, Nobuo N; Yamashita, Shinichi S; Yonemori, Kan K; Kishida, Takeshi T; Ukimura, Osamu O; Nishimura, Kazuo K; Kobayashi, Yasuyuki Y; Nishiyama, Hiroyuki H
Publication Date: 2022-07

Variant appearance in text: NF1: Leu792Phe
PubMed Link: 35462438
Variant Present in the following documents:
  • IJU-29-741-s001.xlsx, sheet 1
View BVdb publication page



Locus-specific concordance of genomic alterations between tissue and plasma circulating tumor DNA in metastatic melanoma.

Molecular Oncology
Calapre, Leslie L; Giardina, Tindaro T; Robinson, Cleo C; Reid, Anna L AL; Al-Ogaili, Zeyad Z; Pereira, Michelle R MR; McEvoy, Ashleigh C AC; Warburton, Lydia L; Hayward, Nicholas K NK; Khattak, Muhammad A MA; Meniawy, Tarek M TM; Millward, Michael M; Amanuel, Benhur B; Ziman, Melanie M; Gray, Elin S ES
Publication Date: 2019-02

Variant appearance in text: NF1: L792F
PubMed Link: 30312528
Variant Present in the following documents:
  • Main text
  • MOL2-13-171-s004.xlsx, sheet 1
  • MOL2-13-171.pdf
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: NF1: L792F
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page