NF1 c.135T>C ;(p.N45=)

Variant ID: 17-29483075-T-C

NM_001042492.2(NF1):c.135T>C;(p.N45=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: NF1: 135T>C; N45N
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



A genome-scale RNA interference screen implicates NF1 loss in resistance to RAF inhibition.

Cancer Discovery
Whittaker, Steven R SR; Theurillat, Jean-Philippe JP; Van Allen, Eliezer E; Wagle, Nikhil N; Hsiao, Jessica J; Cowley, Glenn S GS; Schadendorf, Dirk D; Root, David E DE; Garraway, Levi A LA
Publication Date: 2013-03

Variant appearance in text: NF1: 135T>C
PubMed Link: 23288408
Variant Present in the following documents:
  • Main text
View BVdb publication page