NF1 c.3620G>C ;(p.R1207T)

Variant ID: 17-29560143-G-C

NM_001042492.2(NF1):c.3620G>C;(p.R1207T)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


NF1 loss of function as an alternative initiating event in pancreatic ductal adenocarcinoma.

Cell Reports
Ramakrishnan, Gopalakrishnan G; Parajuli, Parash P; Singh, Pura P; Friend, Creighton C; Hurwitz, Eric E; Prunier, Celine C; Razzaque, Mohammed S MS; Xu, Keli K; Atfi, Azeddine A
Publication Date: 2022-11-08

Variant appearance in text: NF1: R1207T
PubMed Link: 36351408
Variant Present in the following documents:
  • NIHMS1848910-supplement-2.xlsx, sheet 2
  • NIHMS1848910-supplement-2.xlsx, sheet 1
  • NIHMS1848910-supplement-2.xlsx, sheet 3
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Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: NF1: R1207T
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
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NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology
Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S
Publication Date: 2020-03

Variant appearance in text: NF1: R1207T
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
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Alternative lengthening of telomeres, ATRX loss and H3-K27M mutations in histologically defined pilocytic astrocytoma with anaplasia.

Brain Pathology (Zurich, Switzerland)
Rodriguez, Fausto J FJ; Brosnan-Cashman, Jacqueline A JA; Allen, Sariah J SJ; Vizcaino, M Adelita MA; Giannini, Caterina C; Camelo-Piragua, Sandra S; Webb, Milad M; Matsushita, Marcus M; Wadhwani, Nitin N; Tabbarah, Abeer A; Hamideh, Dima D; Jiang, Liqun L; Chen, Liam L; Arvanitis, Leonidas D LD; Alnajar, Hussein H HH; Barber, John R JR; Rodríguez-Velasco, Alicia A; Orr, Brent B; Heaphy, Christopher M CM
Publication Date: 2019-01

Variant appearance in text: NF1: R1207T
PubMed Link: 30192422
Variant Present in the following documents:
  • Main text
View BVdb publication page