TP53 c.349G>A ;(p.G117R)

Variant ID: 17-7579338-C-T

NM_000546.5(TP53):c.349G>A;(p.G117R)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: TP53: G117R
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: TP53: 349G>A; Gly117Ser
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_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: TP53: 349G>A; Gly117Arg
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Defining relative mutational difficulty to understand cancer formation.

Cell Discovery
Shan, Lin L; Yu, Jiao J; He, Zhengjin Z; Chen, Shishuang S; Liu, Mingxian M; Ding, Hongyu H; Xu, Liang L; Zhao, Jie J; Yang, Ailing A; Jiang, Hai H
Publication Date: 2020

Variant appearance in text: p53: G117R
PubMed Link: 32704382
Variant Present in the following documents:
  • 41421_2020_177_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Laying the foundation for genomically-based risk assessment in chronic myeloid leukemia.

Leukemia
Branford, Susan S; Kim, Dennis Dong Hwan DDH; Apperley, Jane F JF; Eide, Christopher A CA; Mustjoki, Satu S; Ong, S Tiong ST; Nteliopoulos, Georgios G; Ernst, Thomas T; Chuah, Charles C; Gambacorti-Passerini, Carlo C; Mauro, Michael J MJ; Druker, Brian J BJ; Kim, Dong-Wook DW; Mahon, Francois-Xavier FX; Cortes, Jorge J; Radich, Jerry P JP; Hochhaus, Andreas A; Hughes, Timothy P TP; ,
Publication Date: 2019-08

Variant appearance in text: TP53: 349G>A; Gly117Arg
PubMed Link: 31209280
Variant Present in the following documents:
  • Main text
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: TP53: G117R
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Cold Spring Harbor Molecular Case Studies
Quinn, Emily A EA; Maciaszek, Jamie L JL; Pinto, Emilia M EM; Phillips, Aaron H AH; Berdy, David D; Khandwala, Mohammad M; Upadhyaya, Santhosh A SA; Zambetti, Gerard P GP; Kriwacki, Richard W RW; Ellison, David W DW; Nichols, Kim E KE; Kesserwan, Chimene C
Publication Date: 2019-08

Variant appearance in text: TP53: 349G>A; Gly117Arg
PubMed Link: 30886117
Variant Present in the following documents:
  • supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: TP53: 349G>A; Gly117Arg
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s4.xlsx, sheet 9
View BVdb publication page



VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Nucleic Acids Research
Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR
Publication Date: 2016-06-20

Variant appearance in text: TP53: 349G>A
PubMed Link: 27060149
Variant Present in the following documents:
  • supp_gkw227_nar-03544-met-k-2015-File003.xls, sheet 2
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: TP53: G117R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Massively parallel single-amino-acid mutagenesis.

Nature Methods
Kitzman, Jacob O JO; Starita, Lea M LM; Lo, Russell S RS; Fields, Stanley S; Shendure, Jay J
Publication Date: 2015-03

Variant appearance in text: p53: G117R
PubMed Link: 25559584
Variant Present in the following documents:
  • NIHMS647096-supplement-2.pdf
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: TP53: G117R
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences.

Oncogene
Pugh, T J TJ; Yu, W W; Yang, J J; Field, A L AL; Ambrogio, L L; Carter, S L SL; Cibulskis, K K; Giannikopoulos, P P; Kiezun, A A; Kim, J J; McKenna, A A; Nickerson, E E; Getz, G G; Hoffher, S S; Messinger, Y H YH; Dehner, L P LP; Roberts, C W M CW; Rodriguez-Galindo, C C; Williams, G M GM; Rossi, C T CT; Meyerson, M M; Hill, D A DA
Publication Date: 2014-11-06

Variant appearance in text: p53: 349G>A
PubMed Link: 24909177
Variant Present in the following documents:
  • onc2014150x7.xls, sheet 6
View BVdb publication page



Mapping the structural and dynamical features of multiple p53 DNA binding domains: insights into loop 1 intrinsic dynamics.

Plos One
Lukman, Suryani S; Lane, David P DP; Verma, Chandra S CS
Publication Date: 2013

Variant appearance in text: p53: G117R
PubMed Link: 24324553
Variant Present in the following documents:
  • Main text
  • pone.0080221.pdf
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: TP53: G117R
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page