NF1 c.1307C>A ;(p.S436*)

Variant ID: 17-29533304-C-A

NM_001042492.2(NF1):c.1307C>A;(p.S436*)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


KIT/PDGFRA/KDR amplification defines a novel molecular subtype of adenoid cystic carcinoma patients who may benefit from treatment with tyrosine kinase inhibitors.

Translational Cancer Research
Hou, Helei H; Jia, Dongmei D; Yan, Weihua W; Zhang, Xiaoping X; Wang, Chunbao C; Li, Yujun Y; Chen, Hua H; Huang, Weiqing W; Li, Zhuokun Z; Zhang, Xiaochun X
Publication Date: 2020-08

Variant appearance in text: NF1: S436*
PubMed Link: 35117834
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression.

Orphanet Journal Of Rare Diseases
Kang, Eungu E; Kim, Yoon-Myung YM; Choi, Yunha Y; Lee, Yena Y; Kim, JunYoung J; Choi, In Hee IH; Yoo, Han-Wook HW; Yoon, Hee Mang HM; Lee, Beom Hee BH
Publication Date: 2022-01-29

Variant appearance in text: NF1: 1307C>A; S436*
PubMed Link: 35093157
Variant Present in the following documents:
  • 13023_2022_Article_2174.pdf
View BVdb publication page



Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression.

Orphanet Journal Of Rare Diseases
Kang, Eungu E; Kim, Yoon-Myung YM; Choi, Yunha Y; Lee, Yena Y; Kim, JunYoung J; Choi, In Hee IH; Yoo, Han-Wook HW; Yoon, Hee Mang HM; Lee, Beom Hee BH
Publication Date: 2022-01-29

Variant appearance in text: NF1: 1307C>A; S436*
PubMed Link: 35093157
Variant Present in the following documents:
  • 13023_2022_Article_2174.pdf
View BVdb publication page



Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications
Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG
Publication Date: 2020-07-30

Variant appearance in text: NF1: S436*
PubMed Link: 32732999
Variant Present in the following documents:
  • 41467_2020_17659_MOESM3_ESM.xls, 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: S436*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Personalized Medicine in the Oncology Clinic: Implementation and Outcomes of the Johns Hopkins Molecular Tumor Board.

Jco Precision Oncology
Dalton, W Brian WB; Forde, Patrick M PM; Kang, Hyunseok H; Connolly, Roisin M RM; Stearns, Vered V; Gocke, Christopher D CD; Eshleman, James R JR; Axilbund, Jennifer J; Petry, Dana D; Geoghegan, Cindy C; Wolff, Antonio C AC; Loeb, David M DM; Pratilas, Christine A CA; Meyer, Christian F CF; Christenson, Eric S ES; Slater, Shannon A SA; Ensminger, Jennifer J; Parsons, Heather A HA; Park, Ben H BH; Lauring, Josh J
Publication Date: 2017

Variant appearance in text: NF1: S436*
PubMed Link: 30003184
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-exome sequencing of duodenal neuroendocrine tumors in patients with neurofibromatosis type 1.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Noë, Michaël M; Pea, Antonio A; Luchini, Claudio C; Felsenstein, Matthäus M; Barbi, Stefano S; Bhaijee, Feriyl F; Yonescu, Raluca R; Ning, Yi Y; Adsay, N Volkan NV; Zamboni, Giuseppe G; Lawlor, Rita T RT; Scarpa, Aldo A; Offerhaus, G Johan A GJA; Brosens, Lodewijk A A LAA; Hruban, Ralph H RH; Roberts, Nicholas J NJ; Wood, Laura D LD
Publication Date: 2018-10

Variant appearance in text: NF1: S436X
PubMed Link: 29849115
Variant Present in the following documents:
  • Main text
  • nihms965317.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: Ser436Ter
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-6.xlsx, sheet 1
View BVdb publication page



A machine learning classifier trained on cancer transcriptomes detects NF1 inactivation signal in glioblastoma.

Bmc Genomics
Way, Gregory P GP; Allaway, Robert J RJ; Bouley, Stephanie J SJ; Fadul, Camilo E CE; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2017-02-06

Variant appearance in text: NF1: S436*
PubMed Link: 28166733
Variant Present in the following documents:
  • 12864_2017_3519_MOESM1_ESM.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: 1307C>A; S436*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: NF1: S436*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page