ERBB2 c.236A>C ;(p.E79A)

Variant ID: 17-37864584-A-C

NM_004448.2(ERBB2):c.236A>C;(p.E79A)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.

International Journal Of Molecular Medicine
Chevrier, Sandy S; Brasselet, Astrid A; Carnet, Marion M; Chevriaux, Angélique A; Gibeaud, Anne A; Jourdain, Marine M; Mananet, Hugo H; Truntzer, Caroline C; Beltjens, Françoise F; Charon-Barra, Céline C; Arnould, Laurent L; Albuisson, Juliette J; Comte, Anthony A; Derangère, Valentin V; Goussot, Vincent V; Boidot, Romain R
Publication Date: 2022-05

Variant appearance in text: ERBB2: 236A>C; Glu79Ala
PubMed Link: 35244186
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 1
View BVdb publication page



The mutational repertoire of uterine sarcomas and carcinosarcomas in a Brazilian cohort: A preliminary study.

Clinics (Sao Paulo, Brazil)
da Costa, Leonardo Tomiatti LT; Dos Anjos, Laura Gonzalez LG; Kagohara, Luciane Tsukamoto LT; Torrezan, Giovana Tardin GT; De Paula, Claudia A Andrade CAA; Baracat, Edmund Chada EC; Carraro, Dirce Maria DM; Carvalho, Katia Candido KC
Publication Date: 2021

Variant appearance in text: HER2: 236A>C
PubMed Link: 33503190
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01

Variant appearance in text: ERBB2: 236A>C; E79A; rs61737968
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
View BVdb publication page



Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.

Frontiers In Genetics
Torrezan, Giovana T GT; de Almeida, Fernanda G Dos Santos R FGDSR; Figueiredo, Márcia C P MCP; Barros, Bruna D de Figueiredo BDF; de Paula, Cláudia A A CAA; Valieris, Renan R; de Souza, Jorge E S JES; Ramalho, Rodrigo F RF; da Silva, Felipe C C FCC; Ferreira, Elisa N EN; de Nóbrega, Amanda F AF; Felicio, Paula S PS; Achatz, Maria I MI; de Souza, Sandro J SJ; Palmero, Edenir I EI; Carraro, Dirce M DM
Publication Date: 2018

Variant appearance in text: ERBB2: 236A>C; Glu79Ala; rs61737968
PubMed Link: 29868112
Variant Present in the following documents:
  • Main text
  • fgene-09-00161.pdf
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs61737968
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: ERBB2: E79A; rs61737968
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page