NF1 c.6841G>T ;(p.G2281*)

Variant ID: 17-29665743-G-T

NM_001042492.2(NF1):c.6841G>T;(p.G2281*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas.

Cancers
Tabebi, Mouna M; Łysiak, Małgorzata M; Dutta, Ravi Kumar RK; Lomazzi, Sandra S; Turkina, Maria V MV; Brunaud, Laurent L; Gimm, Oliver O; Söderkvist, Peter P
Publication Date: 2022-01-06

Variant appearance in text: NF1: 6841G>T; G2281X
PubMed Link: 35053433
Variant Present in the following documents:
  • Main text
  • cancers-14-00269.pdf
View BVdb publication page



Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas.

Cancers
Tabebi, Mouna M; Łysiak, Małgorzata M; Dutta, Ravi Kumar RK; Lomazzi, Sandra S; Turkina, Maria V MV; Brunaud, Laurent L; Gimm, Oliver O; Söderkvist, Peter P
Publication Date: 2022-01-06

Variant appearance in text: NF1: 6841G>T; G2281X
PubMed Link: 35053433
Variant Present in the following documents:
  • Main text
  • cancers-14-00269.pdf
View BVdb publication page



FGFR1 and NTRK3 actionable alterations in "Wild-Type" gastrointestinal stromal tumors.

Journal Of Translational Medicine
Shi, Eileen E; Chmielecki, Juliann J; Tang, Chih-Min CM; Wang, Kai K; Heinrich, Michael C MC; Kang, Guhyun G; Corless, Christopher L CL; Hong, David D; Fero, Katherine E KE; Murphy, James D JD; Fanta, Paul T PT; Ali, Siraj M SM; De Siena, Martina M; Burgoyne, Adam M AM; Movva, Sujana S; Madlensky, Lisa L; Heestand, Gregory M GM; Trent, Jonathan C JC; Kurzrock, Razelle R; Morosini, Deborah D; Ross, Jeffrey S JS; Harismendy, Olivier O; Sicklick, Jason K JK
Publication Date: 2016-12-14

Variant appearance in text: NF1: G2281*
PubMed Link: 27974047
Variant Present in the following documents:
  • 12967_2016_1075_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page