ERBB2 c.3635C>G ;(p.A1212G)

Variant ID: 17-37884164-C-G

NM_004448.2(ERBB2):c.3635C>G;(p.A1212G)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: ERBB2: 3635C>G; Ala1212Gly
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: ERBB2: A1212G
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Distinctive mechanisms underlie the loss of SMARCB1 protein expression in renal medullary carcinoma: morphologic and molecular analysis of 20 cases.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Jia, Liwei L; Carlo, Maria I MI; Khan, Hina H; Nanjangud, Gouri J GJ; Rana, Satshil S; Cimera, Robert R; Zhang, Yanming Y; Hakimi, A Ari AA; Verma, Amit K AK; Al-Ahmadie, Hikmat A HA; Fine, Samson W SW; Gopalan, Anuradha A; Sirintrapun, S Joseph SJ; Tickoo, Satish K SK; Reuter, Victor E VE; Gartrell, Benjamin A BA; Chen, Ying-Bei YB
Publication Date: 2019-09

Variant appearance in text: ERBB2: A1212G
PubMed Link: 30980040
Variant Present in the following documents:
  • NIHMS1523944-supplement-1.xlsx, sheet 1
View BVdb publication page



Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer.

British Journal Of Cancer
Rohan, Thomas E TE; Miller, Christopher A CA; Li, Tiandao T; Wang, Yihong Y; Loudig, Olivier O; Ginsberg, Mindy M; Glass, Andrew A; Mardis, Elaine E
Publication Date: 2018-06

Variant appearance in text: ERBB2: A1212G
PubMed Link: 29872146
Variant Present in the following documents:
  • 41416_2018_89_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Genomic Characterization of Renal Medullary Carcinoma and Treatment Outcomes.

Clinical Genitourinary Cancer
Carlo, Maria I MI; Chaim, Joshua J; Patil, Sujata S; Kemel, Yelena Y; Schram, Alison M AM; Woo, Kaitlin K; Coskey, Devyn D; Nanjangud, Gouri J GJ; Voss, Martin H MH; Feldman, Darren R DR; Hsieh, James J JJ; Hakimi, A Ari AA; Chen, Ying-Bei YB; Motzer, Robert J RJ; Lee, Chung-Han CH
Publication Date: 2017-12

Variant appearance in text: ERBB2: A1212G
PubMed Link: 28558987
Variant Present in the following documents:
  • Main text
View BVdb publication page