NF1 c.3175G>A ;(p.D1059N)

Variant ID: 17-29557921-G-A

NM_001042492.2(NF1):c.3175G>A;(p.D1059N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: NF1: D1059N
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
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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: D1059N
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
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Maximizing response: a case report of salvage chemotherapy after immune checkpoint inhibition in a patient with previous chemo-refractory metastatic esophageal carcinoma.

Journal Of Gastrointestinal Oncology
Greally, Megan M; Agarwal, Rajiv R; El Dika, Imane I; Shamseddine, Ali A; El-Olayan, Ashwaq A; Haibe, Yolla Y; Paroder, Viktoriya V; Shia, Jinru J; Abou-Alfa, Ghassan K GK; Ku, Geoffrey Y GY
Publication Date: 2019-04

Variant appearance in text: NF1: D1059N
PubMed Link: 31032108
Variant Present in the following documents:
  • Main text
View BVdb publication page