ERBB2 c.3173A>C ;(p.D1058A)

Variant ID: 17-37883561-A-C

NM_004448.2(ERBB2):c.3173A>C;(p.D1058A)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Characterization of Non-Small-Cell Lung Cancers With MET Exon 14 Skipping Alterations Detected in Tissue or Liquid: Clinicogenomics and Real-World Treatment Patterns.

Jco Precision Oncology
Lee, Jessica K JK; Madison, Russell R; Classon, Anthony A; Gjoerup, Ole O; Rosenzweig, Mark M; Frampton, Garrett M GM; Alexander, Brian M BM; Oxnard, Geoffrey R GR; Venstrom, Jeffrey M JM; Awad, Mark M MM; Schrock, Alexa B AB
Publication Date: 2021

Variant appearance in text: ERBB2: D1058A
PubMed Link: 34476332
Variant Present in the following documents:
  • po-5-po.21.00122.pdf
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: ERBB2: 3173A>C; D1058A; rs201374810
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
  • pone.0249324.s003.xlsx, sheet 3
View BVdb publication page



Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology
Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR
Publication Date: 2019-04

Variant appearance in text: ERBB2: D1058A
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Enrichment of short mutant cell-free DNA fragments enhanced detection of pancreatic cancer.

Ebiomedicine
Liu, Xiaoyu X; Liu, Lingxiao L; Ji, Yuan Y; Li, Changyu C; Wei, Tao T; Yang, Xuerong X; Zhang, Yuefang Y; Cai, Xuyu X; Gao, Yangbin Y; Xu, Weihong W; Rao, Shengxiang S; Jin, Dayong D; Lou, Wenhui W; Qiu, Zilong Z; Wang, Xiaolin X
Publication Date: 2019-03

Variant appearance in text: rs201374810
PubMed Link: 30857943
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Targeted mutation detection in breast cancer using MammaSeqâ„¢.

Breast Cancer Research : Bcr
Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV
Publication Date: 2019-02-08

Variant appearance in text: ERBB2: D1058A
PubMed Link: 30736836
Variant Present in the following documents:
  • 13058_2019_1102_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications
Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ
Publication Date: 2018-09-04

Variant appearance in text: ERBB2: D1058A
PubMed Link: 30181556
Variant Present in the following documents:
  • 41467_2018_5914_MOESM4_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: 3173A>C; Asp1058Ala; rs201374810
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 8
View BVdb publication page



Functional annotation of rare gene aberration drivers of pancreatic cancer.

Nature Communications
Tsang, Yiu Huen YH; Dogruluk, Turgut T; Tedeschi, Philip M PM; Wardwell-Ozgo, Joanna J; Lu, Hengyu H; Espitia, Maribel M; Nair, Nikitha N; Minelli, Rosalba R; Chong, Zechen Z; Chen, Fengju F; Chang, Qing Edward QE; Dennison, Jennifer B JB; Dogruluk, Armel A; Li, Min M; Ying, Haoqiang H; Bertino, Joseph R JR; Gingras, Marie-Claude MC; Ittmann, Michael M; Kerrigan, John J; Chen, Ken K; Creighton, Chad J CJ; Eterovic, Karina K; Mills, Gordon B GB; Scott, Kenneth L KL
Publication Date: 2016-01-25

Variant appearance in text: ERBB2: D1058A
PubMed Link: 26806015
Variant Present in the following documents:
  • ncomms10500-s2.xls, sheet 1
View BVdb publication page



Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.

Scientific Reports
Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK
Publication Date: 2014-11-14

Variant appearance in text: ERBB2: D1058A
PubMed Link: 25394353
Variant Present in the following documents:
  • srep07063-s2.xls, sheet 2
View BVdb publication page



Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology
Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B
Publication Date: 2014-10-28

Variant appearance in text: ERBB2: D1058A
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page