NF1 c.226G>A ;(p.E76K)

Variant ID: 17-29486049-G-A

NM_001042492.2(NF1):c.226G>A;(p.E76K)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Disease characterization in liquid biopsy from HER2-mutated, non-amplified metastatic breast cancer patients treated with neratinib.

Npj Breast Cancer
Shishido, Stephanie N SN; Masson, Rahul R; Xu, Liya L; Welter, Lisa L; Prabakar, Rishvanth Kaliappan RK; D' Souza, Anishka A; Spicer, Darcy D; Kang, Irene I; Jayachandran, Priya P; Hicks, James J; Lu, Janice J; Kuhn, Peter P
Publication Date: 2022-02-18

Variant appearance in text: NF1: E76K
PubMed Link: 35181666
Variant Present in the following documents:
  • 41523_2022_Article_390.pdf
View BVdb publication page



Translating the Role of mTOR- and RAS-Associated Signalopathies in Autism Spectrum Disorder: Models, Mechanisms and Treatment.

Genes
Vasic, Verica V; Jones, Mattson S O MSO; Haslinger, Denise D; Knaus, Lisa S LS; Schmeisser, Michael J MJ; Novarino, Gaia G; Chiocchetti, Andreas G AG
Publication Date: 2021-10-30

Variant appearance in text: NF1: E76K
PubMed Link: 34828352
Variant Present in the following documents:
  • Main text
View BVdb publication page



Case report: 16-yr life history and genomic evolution of an ER+ HER2- breast cancer.

Cold Spring Harbor Molecular Case Studies
Xu, Bing B; Amallraja, Anu A; Swaminathan, Padmapriya P; Elsey, Rachel R; Davis, Christel C; Theel, Stephanie S; Viet, Sarah S; Petersen, Jason J; Krie, Amy A; Davies, Gareth G; Williams, Casey B CB; Ehli, Erik E; Meißner, Tobias T
Publication Date: 2020-12

Variant appearance in text: NF1: 226G>A; E76K
PubMed Link: 33008833
Variant Present in the following documents:
  • MCS005629Xu.pdf
  • supp_mcs.a005629_Supplemental_Files_1-5.pdf
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: NF1: 226G>A
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
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: Glu76Lys
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-6.xlsx, sheet 1
View BVdb publication page



FGFR3-TACC3 fusion in solid tumors: mini review.

Oncotarget
Costa, Ricardo R; Carneiro, Benedito A BA; Taxter, Timothy T; Tavora, Fabio A FA; Kalyan, Aparna A; Pai, Sachin A SA; Chae, Young Kwang YK; Giles, Francis J FJ
Publication Date: 2016-08-23

Variant appearance in text: NF1: E76K
PubMed Link: 27409839
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genomic landscape of juvenile myelomonocytic leukemia.

Nature Genetics
Stieglitz, Elliot E; Taylor-Weiner, Amaro N AN; Chang, Tiffany Y TY; Gelston, Laura C LC; Wang, Yong-Dong YD; Mazor, Tali T; Esquivel, Emilio E; Yu, Ariel A; Seepo, Sara S; Olsen, Scott S; Rosenberg, Mara M; Archambeault, Sophie L SL; Abusin, Ghada G; Beckman, Kyle K; Brown, Patrick A PA; Briones, Michael M; Carcamo, Benjamin B; Cooper, Todd T; Dahl, Gary V GV; Emanuel, Peter D PD; Fluchel, Mark N MN; Goyal, Rakesh K RK; Hayashi, Robert J RJ; Hitzler, Johann J; Hugge, Christopher C; Liu, Y Lucy YL; Messinger, Yoav H YH; Mahoney, Donald H DH; Monteleone, Philip P; Nemecek, Eneida R ER; Roehrs, Philip A PA; Schore, Reuven J RJ; Stine, Kimo C KC; Takemoto, Clifford M CM; Toretsky, Jeffrey A JA; Costello, Joseph F JF; Olshen, Adam B AB; Stewart, Chip C; Li, Yongjin Y; Ma, Jing J; Gerbing, Robert B RB; Alonzo, Todd A TA; Getz, Gad G; Gruber, Tanja T; Golub, Todd T; Stegmaier, Kimberly K; Loh, Mignon L ML
Publication Date: 2015-11

Variant appearance in text: NF1: 226G>A
PubMed Link: 26457647
Variant Present in the following documents:
  • NIHMS716600-supplement-1.pdf
View BVdb publication page



Molecular targets for the treatment of juvenile myelomonocytic leukemia.

Advances In Hematology
Liu, Xiaoling X; Sabnis, Himalee H; Bunting, Kevin D KD; Qu, Cheng-Kui CK
Publication Date: 2012

Variant appearance in text: NF1: E76K
PubMed Link: 22162691
Variant Present in the following documents:
  • AH2012-308252.pdf
View BVdb publication page



Overexpression of Shp2 tyrosine phosphatase is implicated in leukemogenesis in adult human leukemia.

Blood
Xu, Rongzhen R; Yu, Yingzi Y; Zheng, Shu S; Zhao, Xiaoying X; Dong, Qinghua Q; He, Zhiwen Z; Liang, Yun Y; Lu, Qinghua Q; Fang, Yongmin Y; Gan, Xiaoxian X; Xu, Xiaohua X; Zhang, Suzhan S; Dong, Qi Q; Zhang, Xiaohong X; Feng, Gen-Sheng GS
Publication Date: 2005-11-01

Variant appearance in text: NF1: E76K
PubMed Link: 16030196
Variant Present in the following documents:
  • Main text
View BVdb publication page