ERBB2 c.2006T>C ;(p.V669A)

Variant ID: 17-37879631-T-C

NM_004448.2(ERBB2):c.2006T>C;(p.V669A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Therapeutic management of neuro-oncologic patients - potential relevance of CSF liquid biopsy.

Theranostics
von Baumgarten, Louisa L; Kumbrink, Jörg J; Jung, Andreas A; Reischer, Anna A; Flach, Madeleine M; Liebmann, Sibylle S; Metzeler, Klaus H KH; Holch, Julian W JW; Niyazi, Maximilian M; Thon, Niklas N; Straube, Andreas A; von Bergwelt-Baildon, Michael M; Heinemann, Volker V; Kirchner, Thomas T; Westphalen, Christoph Benedikt CB
Publication Date: 2020

Variant appearance in text: ERBB2: 2006T>C; Val669Ala
PubMed Link: 31903155
Variant Present in the following documents:
  • thnov10p0856s1.pdf
View BVdb publication page



Actionable Activating Oncogenic ERBB2/HER2 Transmembrane and Juxtamembrane Domain Mutations.

Cancer Cell
Pahuja, Kanika Bajaj KB; Nguyen, Thong T TT; Jaiswal, Bijay S BS; Prabhash, Kumar K; Thaker, Tarjani M TM; Senger, Kate K; Chaudhuri, Subhra S; Kljavin, Noelyn M NM; Antony, Aju A; Phalke, Sameer S; Kumar, Prasanna P; Mravic, Marco M; Stawiski, Eric W EW; Vargas, Derek D; Durinck, Steffen S; Gupta, Ravi R; Khanna-Gupta, Arati A; Trabucco, Sally E SE; Sokol, Ethan S ES; Hartmaier, Ryan J RJ; Singh, Ashish A; Chougule, Anuradha A; Trivedi, Vaishakhi V; Dutt, Amit A; Patil, Vijay V; Joshi, Amit A; Noronha, Vanita V; Ziai, James J; Banavali, Sripad D SD; Ramprasad, Vedam V; DeGrado, William F WF; Bueno, Raphael R; Jura, Natalia N; Seshagiri, Somasekar S
Publication Date: 2018-11-12

Variant appearance in text: HER2: V669A
PubMed Link: 30449325
Variant Present in the following documents:
  • Main text
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: ERBB2: V669A
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 2
  • pone.0196434.s001.xlsx, sheet 1
View BVdb publication page