NF1 c.4006C>T ;(p.Q1336*)

Variant ID: 17-29576033-C-T

NM_001042492.2(NF1):c.4006C>T;(p.Q1336*)

This variant was identified in 21 publications

View GRCh38 version.




Publications:


Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology
Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ
Publication Date: 2022-10-11

Variant appearance in text: NF1: Q1336*
PubMed Link: 36219477
Variant Present in the following documents:
  • PATH-259-56-s006.xlsx, sheet 2
  • PATH-259-56-s004.xlsx, sheet 2
View BVdb publication page



Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.

Genome Medicine
Wang, Meng M; Banik, Ishani I; Shain, A Hunter AH; Yeh, Iwei I; Bastian, Boris C BC
Publication Date: 2022-06-16

Variant appearance in text: NF1: Q1336X
PubMed Link: 35706047
Variant Present in the following documents:
  • 13073_2022_1068_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: NF1: Q1336*
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Patient-derived iPSC-cerebral organoid modeling of the 17q11.2 microdeletion syndrome establishes CRLF3 as a critical regulator of neurogenesis.

Cell Reports
Wegscheid, Michelle L ML; Anastasaki, Corina C; Hartigan, Kelly A KA; Cobb, Olivia M OM; Papke, Jason B JB; Traber, Jennifer N JN; Morris, Stephanie M SM; Gutmann, David H DH
Publication Date: 2021-07-06

Variant appearance in text: NF1: 4006C>T
PubMed Link: 34233200
Variant Present in the following documents:
  • NIHMS1722138-supplement-2.pdf
  • NIHMS1722138-supplement-1.pdf
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: NF1: Q1336*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Targeting melanoma's MCL1 bias unleashes the apoptotic potential of BRAF and ERK1/2 pathway inhibitors.

Nature Communications
Sale, Matthew J MJ; Minihane, Emma E; Monks, Noel R NR; Gilley, Rebecca R; Richards, Frances M FM; Schifferli, Kevin P KP; Andersen, Courtney L CL; Davies, Emma J EJ; Vicente, Mario Aladren MA; Ozono, Eiko E; Markovets, Aleksandra A; Dry, Jonathan R JR; Drew, Lisa L; Flemington, Vikki V; Proia, Theresa T; Jodrell, Duncan I DI; Smith, Paul D PD; Cook, Simon J SJ
Publication Date: 2019-11-14

Variant appearance in text: NF1: Q1336*
PubMed Link: 31727888
Variant Present in the following documents:
  • 41467_2019_12409_MOESM1_ESM.pdf
View BVdb publication page



Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets.

Nature Communications
Newell, Felicity F; Kong, Yan Y; Wilmott, James S JS; Johansson, Peter A PA; Ferguson, Peter M PM; Cui, Chuanliang C; Li, Zhongwu Z; Kazakoff, Stephen H SH; Burke, Hazel H; Dodds, Tristan J TJ; Patch, Ann-Marie AM; Nones, Katia K; Tembe, Varsha V; Shang, Ping P; van der Weyden, Louise L; Wong, Kim K; Holmes, Oliver O; Lo, Serigne S; Leonard, Conrad C; Wood, Scott S; Xu, Qinying Q; Rawson, Robert V RV; Mukhopadhyay, Pamela P; Dummer, Reinhard R; Levesque, Mitchell P MP; Jönsson, Göran G; Wang, Xuan X; Yeh, Iwei I; Wu, Hong H; Joseph, Nancy N; Bastian, Boris C BC; Long, Georgina V GV; Spillane, Andrew J AJ; Shannon, Kerwin F KF; Thompson, John F JF; Saw, Robyn P M RPM; Adams, David J DJ; Si, Lu L; Pearson, John V JV; Hayward, Nicholas K NK; Waddell, Nicola N; Mann, Graham J GJ; Guo, Jun J; Scolyer, Richard A RA
Publication Date: 2019-07-18

Variant appearance in text: NF1: 4006C>T; Gln1336*
PubMed Link: 31320640
Variant Present in the following documents:
  • 41467_2019_11107_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



RAS nucleotide cycling underlies the SHP2 phosphatase dependence of mutant BRAF-, NF1- and RAS-driven cancers.

Nature Cell Biology
Nichols, Robert J RJ; Haderk, Franziska F; Stahlhut, Carlos C; Schulze, Christopher J CJ; Hemmati, Golzar G; Wildes, David D; Tzitzilonis, Christos C; Mordec, Kasia K; Marquez, Abby A; Romero, Jason J; Hsieh, Tientien T; Zaman, Aubhishek A; Olivas, Victor V; McCoach, Caroline C; Blakely, Collin M CM; Wang, Zhengping Z; Kiss, Gert G; Koltun, Elena S ES; Gill, Adrian L AL; Singh, Mallika M; Goldsmith, Mark A MA; Smith, Jacqueline A M JAM; Bivona, Trever G TG
Publication Date: 2018-09

Variant appearance in text: NF1: Q1336*
PubMed Link: 30104724
Variant Present in the following documents:
  • Main text
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: 4006C>T
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-5.xlsx, sheet 1
  • NIHMS958974-supplement-6.xlsx, sheet 1
View BVdb publication page



Toward an integrated map of genetic interactions in cancer cells.

Molecular Systems Biology
Rauscher, Benedikt B; Heigwer, Florian F; Henkel, Luisa L; Hielscher, Thomas T; Voloshanenko, Oksana O; Boutros, Michael M
Publication Date: 2018-02-21

Variant appearance in text: NF1: Q1336*
PubMed Link: 29467179
Variant Present in the following documents:
  • MSB-14-e7656-s003.xlsx, sheet 1
View BVdb publication page



Cell Dispersal Influences Tumor Heterogeneity and Introduces a Bias in NGS Data Interpretation.

Scientific Reports
Pongor, Lőrinc L; Harami-Papp, Hajnalka H; Méhes, Előd E; Czirók, András A; Győrffy, Balázs B
Publication Date: 2017-08-04

Variant appearance in text: NF1: 4006C>T
PubMed Link: 28779157
Variant Present in the following documents:
  • 41598_2017_7487_MOESM5_ESM.xls, sheet 2
  • 41598_2017_7487_MOESM5_ESM.xls, sheet 1
  • 41598_2017_7487_MOESM5_ESM.xls, sheet 4
  • 41598_2017_7487_MOESM5_ESM.xls, sheet 5
  • 41598_2017_7487_MOESM6_ESM.xls, sheet 1
  • 41598_2017_7487_MOESM6_ESM.xls, sheet 2
  • 41598_2017_7487_MOESM5_ESM.xls, sheet 3
View BVdb publication page



Investigating the utility of human melanoma cell lines as tumour models.

Oncotarget
Vincent, Krista Marie KM; Postovit, Lynne-Marie LM
Publication Date: 2017-02-07

Variant appearance in text: NF1: Q1336*
PubMed Link: 28060736
Variant Present in the following documents:
  • oncotarget-08-10498-s003.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: NF1: 4006C>T; Q1336*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Hypoxia-regulated gene expression explains differences between melanoma cell line-derived xenografts and patient-derived xenografts.

Oncotarget
Bhadury, Joydeep J; Einarsdottir, Berglind O BO; Podraza, Agnieszka A; Bagge, Roger Olofsson RO; Stierner, Ulrika U; Ny, Lars L; Dávila López, Marcela M; Nilsson, Jonas A JA
Publication Date: 2016-04-26

Variant appearance in text: NF1: Q1336X
PubMed Link: 27009863
Variant Present in the following documents:
  • oncotarget-07-23801-s002.xlsx, sheet 1
View BVdb publication page



Landscape of Targeted Anti-Cancer Drug Synergies in Melanoma Identifies a Novel BRAF-VEGFR/PDGFR Combination Treatment.

Plos One
Friedman, Adam A AA; Amzallag, Arnaud A; Pruteanu-Malinici, Iulian I; Baniya, Subash S; Cooper, Zachary A ZA; Piris, Adriano A; Hargreaves, Leeza L; Igras, Vivien V; Frederick, Dennie T DT; Lawrence, Donald P DP; Haber, Daniel A DA; Flaherty, Keith T KT; Wargo, Jennifer A JA; Ramaswamy, Sridhar S; Benes, Cyril H CH; Fisher, David E DE
Publication Date: 2015

Variant appearance in text: NF1: Q1336*
PubMed Link: 26461489
Variant Present in the following documents:
  • pone.0140310.s011.xlsx, sheet 1
View BVdb publication page



ERBB activation modulates sensitivity to MEK1/2 inhibition in a subset of driver-negative melanoma.

Oncotarget
Hutchinson, Katherine E KE; Johnson, Douglas B DB; Johnson, Adam S AS; Sanchez, Violeta V; Kuba, Maria M; Lu, Pengcheng P; Chen, Xi X; Kelley, Mark C MC; Wang, Qingguo Q; Zhao, Zhongming Z; Kris, Mark M; Berger, Michael F MF; Sosman, Jeffrey A JA; Pao, William W
Publication Date: 2015-09-08

Variant appearance in text: NF1: Q1336*
PubMed Link: 26084293
Variant Present in the following documents:
  • oncotarget-06-22348-s003.xlsx, sheet 1
  • oncotarget-06-22348-s001.pdf
View BVdb publication page



BRAF/NRAS wild-type melanoma, NF1 status and sensitivity to trametinib.

Pigment Cell & Melanoma Research
Ranzani, Marco M; Alifrangis, Constantine C; Perna, Daniele D; Dutton-Regester, Ken K; Pritchard, Antonia A; Wong, Kim K; Rashid, Mamunur M; Robles-Espinoza, Carla Daniela CD; Hayward, Nicholas K NK; McDermott, Ultan U; Garnett, Mathew M; Adams, David J DJ
Publication Date: 2015-01

Variant appearance in text: NF1: Q1336X
PubMed Link: 25243813
Variant Present in the following documents:
  • pcmr0028-0117-sd4.xlsx, sheet 1
View BVdb publication page



Loss of NF1 in cutaneous melanoma is associated with RAS activation and MEK dependence.

Cancer Research
Nissan, Moriah H MH; Pratilas, Christine A CA; Jones, Alexis M AM; Ramirez, Ricardo R; Won, Helen H; Liu, Cailian C; Tiwari, Shakuntala S; Kong, Li L; Hanrahan, Aphrothiti J AJ; Yao, Zhan Z; Merghoub, Taha T; Ribas, Antoni A; Chapman, Paul B PB; Yaeger, Rona R; Taylor, Barry S BS; Schultz, Nikolaus N; Berger, Michael F MF; Rosen, Neal N; Solit, David B DB
Publication Date: 2014-04-15

Variant appearance in text: NF1: Q1336*
PubMed Link: 24576830
Variant Present in the following documents:
  • Main text
View BVdb publication page



Thymidylate synthase expression determines pemetrexed targets and resistance development in tumour cells.

Plos One
Buqué, Aitziber A; Aresti, Unai U; Calvo, Begoña B; Sh Muhialdin, Jangi J; Muñoz, Alberto A; Carrera, Sergio S; Azkona, Eider E; Rubio, Itziar I; López-Vivanco, Guillermo G
Publication Date: 2013

Variant appearance in text: NF1: 4006C>T
PubMed Link: 23675481
Variant Present in the following documents:
  • Main text
View BVdb publication page



Subtype-specific genomic alterations define new targets for soft-tissue sarcoma therapy.

Nature Genetics
Barretina, Jordi J; Taylor, Barry S BS; Banerji, Shantanu S; Ramos, Alexis H AH; Lagos-Quintana, Mariana M; Decarolis, Penelope L PL; Shah, Kinjal K; Socci, Nicholas D ND; Weir, Barbara A BA; Ho, Alan A; Chiang, Derek Y DY; Reva, Boris B; Mermel, Craig H CH; Getz, Gad G; Antipin, Yevgenyi Y; Beroukhim, Rameen R; Major, John E JE; Hatton, Charles C; Nicoletti, Richard R; Hanna, Megan M; Sharpe, Ted T; Fennell, Tim J TJ; Cibulskis, Kristian K; Onofrio, Robert C RC; Saito, Tsuyoshi T; Shukla, Neerav N; Lau, Christopher C; Nelander, Sven S; Silver, Serena J SJ; Sougnez, Carrie C; Viale, Agnes A; Winckler, Wendy W; Maki, Robert G RG; Garraway, Levi A LA; Lash, Alex A; Greulich, Heidi H; Root, David E DE; Sellers, William R WR; Schwartz, Gary K GK; Antonescu, Cristina R CR; Lander, Eric S ES; Varmus, Harold E HE; Ladanyi, Marc M; Sander, Chris C; Meyerson, Matthew M; Singer, Samuel S
Publication Date: 2010-08

Variant appearance in text: NF1: Q1336*
PubMed Link: 20601955
Variant Present in the following documents:
  • Main text
  • NIHMS212743-supplement-4.xlsx, sheet 1
  • nihms212743.pdf
View BVdb publication page



Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

American Journal Of Human Genetics
Fahsold, R R; Hoffmeyer, S S; Mischung, C C; Gille, C C; Ehlers, C C; Kücükceylan, N N; Abdel-Nour, M M; Gewies, A A; Peters, H H; Kaufmann, D D; Buske, A A; Tinschert, S S; Nürnberg, P P
Publication Date: 2000-03

Variant appearance in text: NF1: Q1336X
PubMed Link: 10712197
Variant Present in the following documents:
  • Main text
View BVdb publication page