NF1 c.3773G>A ;(p.W1258*)

Variant ID: 17-29562693-G-A

NM_001042492.2(NF1):c.3773G>A;(p.W1258*)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: NF1: 3773G>A; Trp1258Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Genomic landscape of the immunogenicity regulation in skin melanomas with diverse tumor mutation burden.

Frontiers In Immunology
Georgoulias, George G; Zaravinos, Apostolos A
Publication Date: 2022

Variant appearance in text: NF1: W1258*
PubMed Link: 36389735
Variant Present in the following documents:
  • Table_7.xlsx, sheet 10
View BVdb publication page



Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program 'iTHER'.

European Journal Of Cancer (Oxford, England : 1990)
Langenberg, Karin P S KPS; Meister, Michael T MT; Bakhuizen, Jette J JJ; Boer, Judith M JM; van Eijkelenburg, Natasha K A NKA; Hulleman, Esther E; Ilan, Uri U; Looze, Eleonora J EJ; Dierselhuis, Miranda P MP; van der Lugt, Jasper J; Breunis, Willemijn W; Schild, Linda G LG; Ober, Kimberley K; van Hooff, Sander R SR; Scheijde-Vermeulen, Marijn A MA; Hiemcke-Jiwa, Laura S LS; Flucke, Uta E UE; Kranendonk, Mariette E G MEG; Wesseling, Pieter P; Sonneveld, Edwin E; Punt, Simone S; Boltjes, Arjan A; van Dijk, Freerk F; Verwiel, Eugene T P ETP; Volckmann, Richard R; Hehir-Kwa, Jayne Y JY; Kester, Lennart A LA; Koudijs, Marco M J MMJ; Waanders, Esme E; Holstege, Frank C P FCP; Vormoor, H Josef HJ; Hoving, Eelco W EW; van Noesel, Max M MM; Pieters, Rob R; Kool, Marcel M; Stumpf, Miriam M; Blattner-Johnson, Mirjam M; Balasubramanian, Gnana P GP; Van Tilburg, Cornelis M CM; Jones, Barbara C BC; Jones, David T W DTW; Witt, Olaf O; Pfister, Stefan M SM; Jongmans, Marjolijn C J MCJ; Kuiper, Roland P RP; de Krijger, Ronald R RR; Wijnen, Marc H W MHW; den Boer, Monique L ML; Zwaan, C Michel CM; Kemmeren, Patrick P; Koster, Jan J; Tops, Bastiaan B J BBJ; Goemans, Bianca F BF; Molenaar, Jan J JJ
Publication Date: 2022-11

Variant appearance in text: NF1: 3773G>A; Trp1258*
PubMed Link: 36182817
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
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: W1258*
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology
Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM
Publication Date: 2021-04-01

Variant appearance in text: NF1: W1258*
PubMed Link: 33630025
Variant Present in the following documents:
  • jamaoncol-e207987-s004.xlsx, sheet 2
View BVdb publication page



Loss of miR-204 expression is a key event in melanoma.

Molecular Cancer
Galasso, Marco M; Morrison, Carl C; Minotti, Linda L; Corrà, Fabio F; Zerbinati, Carlotta C; Agnoletto, Chiara C; Baldassari, Federica F; Fassan, Matteo M; Bartolazzi, Armando A; Vecchione, Andrea A; Nuovo, Gerard J GJ; Di Leva, Gianpiero G; D'Atri, Stefania S; Alvino, Ester E; Previati, Maurizio M; Nickoloff, Brian J BJ; Croce, Carlo M CM; Volinia, Stefano S
Publication Date: 2018-03-09

Variant appearance in text: NF1: W1258*
PubMed Link: 29523154
Variant Present in the following documents:
  • 12943_2018_819_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



RGS7 is recurrently mutated in melanoma and promotes migration and invasion of human cancer cells.

Scientific Reports
Qutob, Nouar N; Masuho, Ikuo I; Alon, Michal M; Emmanuel, Rafi R; Cohen, Isadora I; Di Pizio, Antonella A; Madore, Jason J; Elkahloun, Abdel A; Ziv, Tamar T; Levy, Ronen R; Gartner, Jared J JJ; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Greenberg, Polina P; Brodezki, Alexandra A; Rosenberg, Steven A SA; Kosloff, Mickey M; Hayward, Nicholas K NK; Admon, Arie A; Niv, Masha Y MY; Scolyer, Richard A RA; Martemyanov, Kirill A KA; Samuels, Yardena Y
Publication Date: 2018-01-12

Variant appearance in text: NF1: W1258*
PubMed Link: 29330521
Variant Present in the following documents:
  • 41598_2017_18851_MOESM3_ESM.xlsx, sheet 1
  • 41598_2017_18851_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine
Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R
Publication Date: 2017

Variant appearance in text: NF1: W1258*
PubMed Link: 29263839
Variant Present in the following documents:
  • 41525_2017_32_MOESM8_ESM.xlsx, sheet 6
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: 3773G>A; W1258*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

Human Genomics
Laycock-van Spyk, Sebastian S; Thomas, Nick N; Cooper, David N DN; Upadhyaya, Meena M
Publication Date: 2011-10

Variant appearance in text: NF1: Trp1258X
PubMed Link: 22155606
Variant Present in the following documents:
  • 1479-7364-5-6-623.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: W1258X
PubMed Link: 10712197
Variant Present in the following documents:
  • Main text
View BVdb publication page