TP53 c.509C>G ;(p.T170R)

Variant ID: 17-7578421-G-C

NM_000546.5(TP53):c.509C>G;(p.T170R)

This variant was identified in 10 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: rs779000871
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 7
View BVdb publication page



Personalized ctDNA micro-panels can monitor and predict clinical outcomes for patients with triple-negative breast cancer.

Scientific Reports
Barnell, Erica K EK; Fisk, Bryan B; Skidmore, Zachary L ZL; Cotto, Kelsy C KC; Basu, Anamika A; Anand, Aparna A; Richters, Megan M MM; Luo, Jingqin J; Fronick, Catrina C; Anurag, Meenakshi M; Fulton, Robert R; Ellis, Matthew J MJ; Griffith, Obi L OL; Griffith, Malachi M; Ademuyiwa, Foluso O FO
Publication Date: 2022-10-22

Variant appearance in text: TP53: 509C>G
PubMed Link: 36273232
Variant Present in the following documents:
  • 41598_2022_20928_MOESM2_ESM.xlsx, sheet 1
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: 509C>G; Thr170Arg
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page



Combining Ramachandran plot and molecular dynamics simulation for structural-based variant classification: Using TP53 variants as model.

Computational And Structural Biotechnology Journal
Tam, Benjamin B; Sinha, Siddharth S; Wang, San Ming SM
Publication Date: 2020

Variant appearance in text: p53: T170R
PubMed Link: 33363700
Variant Present in the following documents:
  • Main text
  • mmc1.xlsx, sheet 1
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: rs779000871
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: rs779000871
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



Inherited DNA Repair Gene Mutations in Men with Lethal Prostate Cancer.

Genes
Rantapero, Tommi T; Wahlfors, Tiina T; Kähler, Anna A; Hultman, Christina C; Lindberg, Johan J; Tammela, Teuvo Lj TL; Nykter, Matti M; Schleutker, Johanna J; Wiklund, Fredrik F
Publication Date: 2020-03-14

Variant appearance in text: rs779000871
PubMed Link: 32183364
Variant Present in the following documents:
  • genes-11-00314.pdf
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: 509C>G; Thr170Arg
PubMed Link: 30886117
Variant Present in the following documents:
  • supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1
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: T170R
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.xls, sheet 1
View BVdb publication page



Panel sequencing for clinically oriented variant screening and copy number detection in 142 untreated multiple myeloma patients.

Blood Cancer Journal
Kortuem, K M KM; Braggio, E E; Bruins, L L; Barrio, S S; Shi, C S CS; Zhu, Y X YX; Tibes, R R; Viswanatha, D D; Votruba, P P; Ahmann, G G; Fonseca, R R; Jedlowski, P P; Schlam, I I; Kumar, S S; Bergsagel, P L PL; Stewart, A K AK
Publication Date: 2016-02-26

Variant appearance in text: TP53: Thr170Arg
PubMed Link: 26918361
Variant Present in the following documents:
  • bcj20161x1.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: T170R
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page