NF1 c.1435G>T ;(p.E479*)

Variant ID: 17-29541511-G-T

NM_001042492.2(NF1):c.1435G>T;(p.E479*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Targeting genome integrity dysfunctions impedes metastatic potency in non-small cell lung cancer circulating tumor cell-derived explants.

Jci Insight
Tayoun, Tala T; Faugeroux, Vincent V; Oulhen, Marianne M; Déas, Olivier O; Michels, Judith J; Brulle-Soumare, Laura L; Cairo, Stefano S; Scoazec, Jean-Yves JY; Marty, Virginie V; Aberlenc, Agathe A; Planchard, David D; Remon, Jordi J; Ponce, Santiago S; Besse, Benjamin B; Kannouche, Patricia L PL; Judde, Jean-Gabriel JG; Pawlikowska, Patrycja P; Farace, Françoise F
Publication Date: 2022-06-08

Variant appearance in text: NF1: 1435G>T; Glu479Ter
PubMed Link: 35511434
Variant Present in the following documents:
  • jciinsight-7-155804-s148.xlsx, sheet 4
  • jciinsight-7-155804-s148.xlsx, sheet 7
  • jciinsight-7-155804-s148.xlsx, sheet 6
  • jciinsight-7-155804-s148.xlsx, sheet 2
View BVdb publication page



Analysis of gene expression signatures identifies prognostic and functionally distinct ovarian clear cell carcinoma subtypes.

Ebiomedicine
Tan, Tuan Zea TZ; Ye, Jieru J; Yee, Chung Vin CV; Lim, Diana D; Ngoi, Natalie Yan Li NYL; Tan, David Shao Peng DSP; Huang, Ruby Yun-Ju RY
Publication Date: 2019-12

Variant appearance in text: NF1: 1435G>T; E479*
PubMed Link: 31761620
Variant Present in the following documents:
  • mmc1.xlsx, sheet 7
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: NF1: E479*
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 21
View BVdb publication page



[Clinical and genetic analyses of juvenile myelomonocytic leukemia].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics
Zeng, Min-Hui MH; He, Xiang-Ling XL; Yang, Ming-Hua MH; Zheng, Min-Cui MC; Wan, Wu-Qing WQ; Zou, Run-Ying RY; Chen, Ke-Ke KK
Publication Date: 2019-04

Variant appearance in text: NF1: 1435G>T; Glu479Ter
PubMed Link: 31014430
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome.

Nature Communications
Rusch, Michael M; Nakitandwe, Joy J; Shurtleff, Sheila S; Newman, Scott S; Zhang, Zhaojie Z; Edmonson, Michael N MN; Parker, Matthew M; Jiao, Yuannian Y; Ma, Xiaotu X; Liu, Yanling Y; Gu, Jiali J; Walsh, Michael F MF; Becksfort, Jared J; Thrasher, Andrew A; Li, Yongjin Y; McMurry, James J; Hedlund, Erin E; Patel, Aman A; Easton, John J; Yergeau, Donald D; Vadodaria, Bhavin B; Tatevossian, Ruth G RG; Raimondi, Susana S; Hedges, Dale D; Chen, Xiang X; Hagiwara, Kohei K; McGee, Rose R; Robinson, Giles W GW; Klco, Jeffery M JM; Gruber, Tanja A TA; Ellison, David W DW; Downing, James R JR; Zhang, Jinghui J
Publication Date: 2018-09-27

Variant appearance in text: NF1: E479*
PubMed Link: 30262806
Variant Present in the following documents:
  • 41467_2018_6485_MOESM10_ESM.xlsx, sheet 2
  • 41467_2018_6485_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page