NF1 c.843C>A ;(p.I281=)

Variant ID: 17-29509638-C-A

NM_001042492.2(NF1):c.843C>A;(p.I281=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


H3K27me3 expression and methylation status in histological variants of malignant peripheral nerve sheath tumours.

The Journal Of Pathology
Lyskjaer, Iben I; Lindsay, Daniel D; Tirabosco, Roberto R; Steele, Christopher D CD; Lombard, Patrick P; Strobl, Anna-Christina AC; Rocha, Ana M AM; Davies, Christopher C; Ye, Hongtao H; Bekers, Elise E; Ingruber, Julia J; Lechner, Matt M; Amary, Fernanda F; Pillay, Nischalan N; Flanagan, Adrienne M AM
Publication Date: 2020-10

Variant appearance in text: NF1: 843C>A
PubMed Link: 32666581
Variant Present in the following documents:
  • PATH-252-151.pdf
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: 843C>A
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-5.xlsx, sheet 1
View BVdb publication page



Primary and secondary gliosarcomas: clinical, molecular and survival characteristics.

Journal Of Neuro-Oncology
Cachia, David D; Kamiya-Matsuoka, Carlos C; Mandel, Jacob J JJ; Olar, Adriana A; Cykowski, Matthew D MD; Armstrong, Terri S TS; Fuller, Gregory N GN; Gilbert, Mark R MR; De Groot, John F JF
Publication Date: 2015-11

Variant appearance in text: NF1: 843C>A
PubMed Link: 26354773
Variant Present in the following documents:
  • Main text
View BVdb publication page