EGR1 c.838_840delinsAAG ;(p.R280K)

Variant ID: 5-137802976-CGC-AAG

NM_001964.2(EGR1):c.838_840delinsAAG;(p.R280K)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Acquisition of aneuploidy drives mutant p53-associated gain-of-function phenotypes.

Nature Communications
Redman-Rivera, Lindsay N LN; Shaver, Timothy M TM; Jin, Hailing H; Marshall, Clayton B CB; Schafer, Johanna M JM; Sheng, Quanhu Q; Hongo, Rachel A RA; Beckermann, Kathryn E KE; Wheeler, Ferrin C FC; Lehmann, Brian D BD; Pietenpol, Jennifer A JA
Publication Date: 2021-08-31

Variant appearance in text: 225: R280K
PubMed Link: 34465782
Variant Present in the following documents:
  • 41467_2021_25359_MOESM5_ESM.xlsx, sheet 30
View BVdb publication page



TP53 isoform junction reads based analysis in malignant and normal contexts.

Scientific Reports
Vural, Suleyman S; Chang, Lun-Ching LC; Yee, Laura M LM; Sonkin, Dmitriy D
Publication Date: 2021-08-26

Variant appearance in text: 225: R280K
PubMed Link: 34446762
Variant Present in the following documents:
  • 41598_2021_96700_MOESM1_ESM.xlsx, sheet 2
  • 41598_2021_96700_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: 225: R280K
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
View BVdb publication page



Mutational processes shape the landscape of TP53 mutations in human cancer.

Nature Genetics
Giacomelli, Andrew O AO; Yang, Xiaoping X; Lintner, Robert E RE; McFarland, James M JM; Duby, Marc M; Kim, Jaegil J; Howard, Thomas P TP; Takeda, David Y DY; Ly, Seav Huong SH; Kim, Eejung E; Gannon, Hugh S HS; Hurhula, Brian B; Sharpe, Ted T; Goodale, Amy A; Fritchman, Briana B; Steelman, Scott S; Vazquez, Francisca F; Tsherniak, Aviad A; Aguirre, Andrew J AJ; Doench, John G JG; Piccioni, Federica F; Roberts, Charles W M CWM; Meyerson, Matthew M; Getz, Gad G; Johannessen, Cory M CM; Root, David E DE; Hahn, William C WC
Publication Date: 2018-10

Variant appearance in text: 225: R280K
PubMed Link: 30224644
Variant Present in the following documents:
  • NIHMS1501645-supplement-4.xlsx, sheet 1
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: 225: R280K
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Common hydrogen bond interactions in diverse phosphoryl transfer active sites.

Plos One
Summerton, Jean C JC; Martin, Gregory M GM; Evanseck, Jeffrey D JD; Chapman, Michael S MS
Publication Date: 2014

Variant appearance in text: 225: R280K
PubMed Link: 25238155
Variant Present in the following documents:
  • Main text
View BVdb publication page



High frequency of complex TP53 mutations in CNS metastases from breast cancer.

British Journal Of Cancer
Lo Nigro, C C; Vivenza, D D; Monteverde, M M; Lattanzio, L L; Gojis, O O; Garrone, O O; Comino, A A; Merlano, M M; Quinlan, P R PR; Syed, N N; Purdie, C A CA; Thompson, A A; Palmieri, C C; Crook, T T
Publication Date: 2012-01-17

Variant appearance in text: 225: Arg280Lys
PubMed Link: 22187033
Variant Present in the following documents:
  • bjc2011464a.pdf
View BVdb publication page



High resolution melting for mutation scanning of TP53 exons 5-8.

Bmc Cancer
Krypuy, Michael M; Ahmed, Ahmed Ashour AA; Etemadmoghadam, Dariush D; Hyland, Sarah J SJ; , ; DeFazio, Anna A; Fox, Stephen B SB; Brenton, James D JD; Bowtell, David D DD; Dobrovic, Alexander A
Publication Date: 2007-08-31

Variant appearance in text: 225: R280K
PubMed Link: 17764544
Variant Present in the following documents:
  • Main text
View BVdb publication page