ERBB2 c.1940G>C ;(p.R647T)

Variant ID: 17-37876081-G-C

NM_004448.2(ERBB2):c.1940G>C;(p.R647T)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: ERBB2: R647T; rs201784472
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing analysis of endometrial screening liquid-based cytology specimens: a comparative study to tissue specimens.

Bmc Medical Genomics
Akahane, Toshiaki T; Kitazono, Ikumi I; Yanazume, Shintaro S; Kamio, Masaki M; Togami, Shinichi S; Sakamoto, Ippei I; Nohara, Sachio S; Yokoyama, Seiya S; Kobayashi, Hiroaki H; Hiraki, Tsubasa T; Suzuki, Shinsuke S; Ueno, Shinichi S; Tanimoto, Akihide A
Publication Date: 2020-07-11

Variant appearance in text: ERBB2: 1940G>C; Arg647Thr
PubMed Link: 32652986
Variant Present in the following documents:
  • 12920_2020_753_MOESM2_ESM.xlsx, sheet 1
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: R647T
PubMed Link: 30449325
Variant Present in the following documents:
  • Main text
View BVdb publication page