NF1 c.1790_1791delinsAA ;(p.L597Q)

Variant ID: 17-29550530-TC-AA

NM_001042492.2(NF1):c.1790_1791delinsAA;(p.L597Q)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


KRAS and RAS-MAPK Pathway Deregulation in Mature B Cell Lymphoproliferative Disorders.

Cancers
Vendramini, Elena E; Bomben, Riccardo R; Pozzo, Federico F; Bittolo, Tamara T; Tissino, Erika E; Gattei, Valter V; Zucchetto, Antonella A
Publication Date: 2022-01-28

Variant appearance in text: NF1: L597Q
PubMed Link: 35158933
Variant Present in the following documents:
  • Main text
  • cancers-14-00666.pdf
View BVdb publication page



KRAS and RAS-MAPK Pathway Deregulation in Mature B Cell Lymphoproliferative Disorders.

Cancers
Vendramini, Elena E; Bomben, Riccardo R; Pozzo, Federico F; Bittolo, Tamara T; Tissino, Erika E; Gattei, Valter V; Zucchetto, Antonella A
Publication Date: 2022-01-28

Variant appearance in text: NF1: L597Q
PubMed Link: 35158933
Variant Present in the following documents:
  • Main text
  • cancers-14-00666.pdf
View BVdb publication page



Pre-Treatment Mutational and Transcriptomic Landscape of Responding Metastatic Melanoma Patients to Anti-PD1 Immunotherapy.

Cancers
Amato, Carol M CM; Hintzsche, Jennifer D JD; Wells, Keith K; Applegate, Allison A; Gorden, Nicholas T NT; Vorwald, Victoria M VM; Tobin, Richard P RP; Nassar, Kelsey K; Shellman, Yiqun G YG; Kim, Jihye J; Medina, Theresa M TM; Rioth, Matthew M; Lewis, Karl D KD; McCarter, Martin D MD; Gonzalez, Rene R; Tan, Aik-Choon AC; Robinson, William A WA
Publication Date: 2020-07-17

Variant appearance in text: NF1: L597Q
PubMed Link: 32708981
Variant Present in the following documents:
  • cancers-12-01943.pdf
View BVdb publication page



Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: NF1: Leu597Gln
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-6.xlsx, sheet 1
View BVdb publication page



Oncogene Mutation Survey in MPNST Cell Lines Enhances the Dominant Role of Hyperactive Ras in NF1 Associated Pro-Survival and Malignancy.

Translational Oncogenomics
Sun, Daochun D; Tainsky, Michael A MA; Haddad, Ramsi R
Publication Date: 2012

Variant appearance in text: NF1: L597Q
PubMed Link: 22346343
Variant Present in the following documents:
  • tog-5-2012-001.pdf
View BVdb publication page