NF1 c.1453del ;(p.E485Rfs*13)

Variant ID: 17-29541527-TG-T

NM_001042492.2(NF1):c.1453del;(p.E485Rfs*13)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: E485Rfs*13
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
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18F-FDOPA PET/CT accurately identifies MEN1-associated pheochromocytoma.

Endocrinology, Diabetes & Metabolism Case Reports
Tepede, Aisha A AA; Welch, James J; Lee, Maya M; Mandl, Adel A; Agarwal, Sunita K SK; Nilubol, Naris N; Patel, Dhaval D; Cochran, Craig C; Simonds, William F WF; Weinstein, Lee S LS; Jha, Abhishek A; Millo, Corina C; Pacak, Karel K; Blau, Jenny E JE
Publication Date: 2020-03-03

Variant appearance in text: NF1: 1452delG
PubMed Link: 32130200
Variant Present in the following documents:
  • Main text
View BVdb publication page