ERBB2 c.43C>T ;(p.L15F)

Variant ID: 17-37856534-C-T

NM_004448.2(ERBB2):c.43C>T;(p.L15F)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01

Variant appearance in text: ERBB2: L15F; rs193171026
PubMed Link: 30385747
Variant Present in the following documents:
  • 41467_2018_6690_MOESM6_ESM.xlsx, sheet 1
  • 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: ERBB2: 43C>T; Leu15Phe; rs193171026
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 7
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: ERBB2: L15F
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Impact of ERBB2 mutations on in vitro sensitivity of bladder cancer to lapatinib.

Cancer Biology & Therapy
de Martino, Michela M; Zhuang, Dazhong D; Klatte, Tobias T; Rieken, Malte M; RouprĂȘt, Morgan M; Xylinas, Evanguelos E; Clozel, Thomas T; Krzywinski, Martin M; Elemento, Olivier O; Shariat, Shahrokh F SF
Publication Date: 2014-09

Variant appearance in text: ERBB2: L15F
PubMed Link: 24971884
Variant Present in the following documents:
  • Main text
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: L15F; rs193171026
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page