NF1 c.6853_6856del ;(p.Y2285Tfs*5)

Variant ID: 17-29665755-TTACA-T

NM_001042492.2(NF1):c.6853_6856del;(p.Y2285Tfs*5)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Single cell spatial analysis reveals the topology of immunomodulatory purinergic signaling in glioblastoma.

Nature Communications
Coy, Shannon S; Wang, Shu S; Stopka, Sylwia A SA; Lin, Jia-Ren JR; Yapp, Clarence C; Ritch, Cecily C CC; Salhi, Lisa L; Baker, Gregory J GJ; Rashid, Rumana R; Baquer, Gerard G; Regan, Michael M; Khadka, Prasidda P; Cole, Kristina A KA; Hwang, Jaeho J; Wen, Patrick Y PY; Bandopadhayay, Pratiti P; Santi, Mariarita M; De Raedt, Thomas T; Ligon, Keith L KL; Agar, Nathalie Y R NYR; Sorger, Peter K PK; Touat, Mehdi M; Santagata, Sandro S
Publication Date: 2022-08-16

Variant appearance in text: NF1: Y2285Tfs*5
PubMed Link: 35973991
Variant Present in the following documents:
  • 41467_2022_32430_MOESM17_ESM.xlsx, sheet 31
View BVdb publication page



Expression of neurofibromin 1 in colorectal cancer and cetuximab resistance.

Oncology Reports
Tak, Eunyoung E; Kim, Minhee M; Cho, Youngra Y; Choi, Sueun S; Kim, Jihun J; Han, Buhm B; Kim, Hyung-Don HD; Jang, Chloe Soo-Hyun CS; Kim, Jeong Eun JE; Hong, Yong Sang YS; Kim, Sun Young SY; Kim, Tae Won TW
Publication Date: 2022-01

Variant appearance in text: NF1: Y2285Tfs*5
PubMed Link: 34779495
Variant Present in the following documents:
  • Supplementary_Data.pdf
View BVdb publication page



Genomic landscape of gliosarcoma: distinguishing features and targetable alterations.

Scientific Reports
Zaki, Mark M MM; Mashouf, Leila A LA; Woodward, Eleanor E; Langat, Pinky P; Gupta, Saksham S; Dunn, Ian F IF; Wen, Patrick Y PY; Nahed, Brian V BV; Bi, Wenya Linda WL
Publication Date: 2021-09-09

Variant appearance in text: NF1: Y2285Tfs*5
PubMed Link: 34504233
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_97454.pdf
View BVdb publication page



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: Y2285Tfs*5
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



Correlation of genetic alterations by whole-exome sequencing with clinical outcomes of glioblastoma patients from the Lebanese population.

Plos One
Saadeh, Fadi S FS; Morsi, Rami Z RZ; El-Kurdi, Abdallah A; Nemer, Georges G; Mahfouz, Rami R; Charafeddine, Maya M; Khoury, Jessica J; Najjar, Marwan W MW; Khoueiry, Pierre P; Assi, Hazem I HI
Publication Date: 2020

Variant appearance in text: NF1: Y2285Tfs*5
PubMed Link: 33237934
Variant Present in the following documents:
  • pone.0242793.s003.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: NF1: Y2285Tfs*5
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
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: Y2285Tfs*5
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



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: Y2285Tfs*5
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page