TP53 c.970G>A ;(p.D324N)

Variant ID: 17-7576876-C-T

NM_000546.5(TP53):c.970G>A;(p.D324N)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022

Variant appearance in text: rs1064794810
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 7
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: 970G>A; D324N
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation
Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T
Publication Date: 2021-05

Variant appearance in text: rs1064794810
PubMed Link: 33257846
Variant Present in the following documents:
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation
Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T
Publication Date: 2021-05

Variant appearance in text: rs1064794810
PubMed Link: 33257846
Variant Present in the following documents:
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 4
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Case report for an adolescent with germline RET mutation and alveolar rhabdomyosarcoma.

Cold Spring Harbor Molecular Case Studies
Crawford, Kenneth A KA; Berlow, Noah E NE; Tsay, Jennifer J; Lazich, Michael M; Mancini, Maria M; Noakes, Christopher C; Huang, Tannie T; Keller, Charles C
Publication Date: 2020-06

Variant appearance in text: TP53: 970G>A
PubMed Link: 32532875
Variant Present in the following documents:
  • MCS004853Cra.pdf
View BVdb publication page



Incidence and distribution of UroSEEK gene panel in a multi-institutional cohort of bladder urothelial carcinoma.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Eich, Marie-Lisa ML; Rodriguez Pena, Maria Del Carmen MDC; Springer, Simeon U SU; Taheri, Diana D; Tregnago, Aline C AC; Salles, Daniela C DC; Bezerra, Stephania Martins SM; Cunha, Isabela W IW; Fujita, Kazutoshi K; Ertoy, Dilek D; Bivalacqua, Trinity J TJ; Tomasetti, Cristian C; Papadopoulos, Nickolas N; Kinzler, Ken W KW; Vogelstein, Bert B; Netto, George J GJ
Publication Date: 2019-10

Variant appearance in text: TP53: D324N
PubMed Link: 31028363
Variant Present in the following documents:
  • NIHMS1525315-supplement-2.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: 970G>A; Asp324Asn
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s4.xlsx, sheet 9
  • bty518_supplementary_data_s3.xlsx, sheet 9
View BVdb publication page



Genomic Evolution of Breast Cancer Metastasis and Relapse.

Cancer Cell
Yates, Lucy R LR; Knappskog, Stian S; Wedge, David D; Farmery, James H R JHR; Gonzalez, Santiago S; Martincorena, Inigo I; Alexandrov, Ludmil B LB; Van Loo, Peter P; Haugland, Hans Kristian HK; Lilleng, Peer Kaare PK; Gundem, Gunes G; Gerstung, Moritz M; Pappaemmanuil, Elli E; Gazinska, Patrycja P; Bhosle, Shriram G SG; Jones, David D; Raine, Keiran K; Mudie, Laura L; Latimer, Calli C; Sawyer, Elinor E; Desmedt, Christine C; Sotiriou, Christos C; Stratton, Michael R MR; Sieuwerts, Anieta M AM; Lynch, Andy G AG; Martens, John W JW; Richardson, Andrea L AL; Tutt, Andrew A; Lønning, Per Eystein PE; Campbell, Peter J PJ
Publication Date: 2017-08-14

Variant appearance in text: TP53: D324N
PubMed Link: 28810143
Variant Present in the following documents:
  • mmc4.xlsx, sheet 3
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: TP53: D324N
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.xls, sheet 1
View BVdb publication page



Use of dedicated gene panel sequencing using next generation sequencing to improve the personalized care of lung cancer.

Oncotarget
Kaderbhai, Coureche Guillaume CG; Boidot, Romain R; Beltjens, Françoise F; Chevrier, Sandy S; Arnould, Laurent L; Favier, Laure L; Lagrange, Aurélie A; Coudert, Bruno B; Ghiringhelli, François F
Publication Date: 2016-04-26

Variant appearance in text: TP53: D324N
PubMed Link: 27027238
Variant Present in the following documents:
  • oncotarget-07-24860-s001.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: D324N
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: 970G>A
PubMed Link: 24909177
Variant Present in the following documents:
  • onc2014150x7.xls, sheet 6
View BVdb publication page



DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.

Nature
Ley, Timothy J TJ; Mardis, Elaine R ER; Ding, Li L; Fulton, Bob B; McLellan, Michael D MD; Chen, Ken K; Dooling, David D; Dunford-Shore, Brian H BH; McGrath, Sean S; Hickenbotham, Matthew M; Cook, Lisa L; Abbott, Rachel R; Larson, David E DE; Koboldt, Dan C DC; Pohl, Craig C; Smith, Scott S; Hawkins, Amy A; Abbott, Scott S; Locke, Devin D; Hillier, Ladeana W LW; Miner, Tracie T; Fulton, Lucinda L; Magrini, Vincent V; Wylie, Todd T; Glasscock, Jarret J; Conyers, Joshua J; Sander, Nathan N; Shi, Xiaoqi X; Osborne, John R JR; Minx, Patrick P; Gordon, David D; Chinwalla, Asif A; Zhao, Yu Y; Ries, Rhonda E RE; Payton, Jacqueline E JE; Westervelt, Peter P; Tomasson, Michael H MH; Watson, Mark M; Baty, Jack J; Ivanovich, Jennifer J; Heath, Sharon S; Shannon, William D WD; Nagarajan, Rakesh R; Walter, Matthew J MJ; Link, Daniel C DC; Graubert, Timothy A TA; DiPersio, John F JF; Wilson, Richard K RK
Publication Date: 2008-11-06

Variant appearance in text: TP53: D324N
PubMed Link: 18987736
Variant Present in the following documents:
  • NIHMS71093-supplement-1.pdf
View BVdb publication page