NF1 c.5368G>A ;(p.E1790K)

Variant ID: 17-29654616-G-A

NM_001042492.2(NF1):c.5368G>A;(p.E1790K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity.

Nature Communications
Newell, Felicity F; Wilmott, James S JS; Johansson, Peter A PA; Nones, Katia K; Addala, Venkateswar V; Mukhopadhyay, Pamela P; Broit, Natasa N; Amato, Carol M CM; Van Gulick, Robert R; Kazakoff, Stephen H SH; Patch, Ann-Marie AM; Koufariotis, Lambros T LT; Lakis, Vanessa V; Leonard, Conrad C; Wood, Scott S; Holmes, Oliver O; Xu, Qinying Q; Lewis, Karl K; Medina, Theresa T; Gonzalez, Rene R; Saw, Robyn P M RPM; Spillane, Andrew J AJ; Stretch, Jonathan R JR; Rawson, Robert V RV; Ferguson, Peter M PM; Dodds, Tristan J TJ; Thompson, John F JF; Long, Georgina V GV; Levesque, Mitchell P MP; Robinson, William A WA; Pearson, John V JV; Mann, Graham J GJ; Scolyer, Richard A RA; Waddell, Nicola N; Hayward, Nicholas K NK
Publication Date: 2020-10-16

Variant appearance in text: NF1: 5368G>A
PubMed Link: 33067454
Variant Present in the following documents:
  • 41467_2020_18988_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Blood-based monitoring identifies acquired and targetable driver HER2 mutations in endocrine-resistant metastatic breast cancer.

Npj Precision Oncology
Medford, Arielle J AJ; Dubash, Taronish D TD; Juric, Dejan D; Spring, Laura L; Niemierko, Andrzej A; Vidula, Neelima N; Peppercorn, Jeffrey J; Isakoff, Steven S; Reeves, Brittany A BA; LiCausi, Joseph A JA; Wesley, Benjamin B; Malvarosa, Giuliana G; Yuen, Megan M; Wittner, Ben S BS; Lawrence, Michael S MS; Iafrate, A John AJ; Ellisen, Leif L; Moy, Beverly B; Toner, Mehmet M; Maheswaran, Shyamala S; Haber, Daniel A DA; Bardia, Aditya A
Publication Date: 2019

Variant appearance in text: NF1: E1790K
PubMed Link: 31341951
Variant Present in the following documents:
  • Main text
  • 41698_2019_Article_90.pdf
View BVdb publication page