TP53 c.970G>C ;(p.D324H)

Variant ID: 17-7576876-C-G

NM_000546.5(TP53):c.970G>C;(p.D324H)

This variant was identified in 11 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



Single-cell transcriptomic analysis suggests two molecularly subtypes of intrahepatic cholangiocarcinoma.

Nature Communications
Song, Guohe G; Shi, Yang Y; Meng, Lu L; Ma, Jiaqiang J; Huang, Siyuan S; Zhang, Juan J; Wu, Yingcheng Y; Li, Jiaxin J; Lin, Youpei Y; Yang, Shuaixi S; Rao, Dongning D; Cheng, Yifei Y; Lin, Jian J; Ji, Shuyi S; Liu, Yuming Y; Jiang, Shan S; Wang, Xiaoliang X; Zhang, Shu S; Ke, Aiwu A; Wang, Xiaoying X; Cao, Ya Y; Ji, Yuan Y; Zhou, Jian J; Fan, Jia J; Zhang, Xiaoming X; Xi, Ruibin R; Gao, Qiang Q
Publication Date: 2022-03-28

Variant appearance in text: TP53: 970G>C; D324H
PubMed Link: 35347134
Variant Present in the following documents:
  • 41467_2022_29164_MOESM13_ESM.xlsx, sheet 9
View BVdb publication page



Genomic mutation profile in progressive chronic lymphocytic leukemia patients prior to first-line chemoimmunotherapy with FCR and rituximab maintenance (REM).

Plos One
González-Rincón, Julia J; Garcia-Vela, José A JA; Gómez, Sagrario S; Fernández-Cuevas, Belén B; Nova-Gurumeta, Sara S; Pérez-Sanz, Nuria N; Alcoceba, Miguel M; González, Marcos M; Anguita, Eduardo E; López-Jiménez, Javier J; González-Barca, Eva E; Yáñez, Lucrecia L; Pérez-Persona, Ernesto E; de la Serna, Javier J; Fernández-Zarzoso, Miguel M; Deben, Guillermo G; Peñalver, Francisco J FJ; Fernández, María C MC; de Oteyza, Jaime Pérez JP; Andreu, M Ángeles MÁ; Ruíz-Guinaldo, M Ángeles MÁ; Paz-Arias, Raquel R; García-Malo, M Dolores MD; Recasens, Valle V; Collado, Rosa R; Córdoba, Raúl R; Navarro-Matilla, Belén B; Sánchez-Beato, Margarita M; García-Marco, José A JA
Publication Date: 2021

Variant appearance in text: TP53: Asp324His
PubMed Link: 34506616
Variant Present in the following documents:
  • pone.0257353.s001.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: 970G>C; Asp324His
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
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



Active Disclosure of Secondary Germline Findings to Deceased Research Participants' Personal Representatives: Process and Outcomes.

Jco Precision Oncology
Daniels, Molly M; Wathoo, Chetna C; Brusco, Lauren L; Lu, Karen H KH; Shaw, Kenna K; Dumbrava, Ecaterina E Ileana EEI; Arun, Banu B; Strong, Louise L; Litton, Jennifer K JK; Eterovic, Karina K; Aytac, Ugur U; Mendelsohn, John J; Mills, Gordon B GB; Chen, Ken K; Meric-Bernstam, Funda F
Publication Date: 2017

Variant appearance in text: TP53: D324H
PubMed Link: 31552380
Variant Present in the following documents:
  • Main text
View BVdb publication page



POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.

Journal Of The American Heart Association
Calvete, Oriol O; Garcia-Pavia, Pablo P; Domínguez, Fernando F; Mosteiro, Lluc L; Pérez-Cabornero, Lucía L; Cantalapiedra, Diego D; Zorio, Esther E; Ramón Y Cajal, Teresa T; Crespo-Leiro, Maria G MG; Teulé, Álex Á; Lázaro, Conxi C; Morente, Manuel M MM; Urioste, Miguel M; Benitez, Javier J
Publication Date: 2019-09-17

Variant appearance in text: TP53: D324H
PubMed Link: 31510873
Variant Present in the following documents:
  • JAH3-8-e012875.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: 970G>C; Asp324His
PubMed Link: 30886117
Variant Present in the following documents:
  • supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1
  • supp_mcs.a003921_Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page



Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.

Human Mutation
de Andrade, Kelvin C KC; Frone, Megan N MN; Wegman-Ostrosky, Talia T; Khincha, Payal P PP; Kim, Jung J; Amadou, Amina A; Santiago, Karina M KM; Fortes, Fernanda P FP; Lemonnier, Nathanaël N; Mirabello, Lisa L; Stewart, Douglas R DR; Hainaut, Pierre P; Kowalski, Luiz P LP; Savage, Sharon A SA; Achatz, Maria I MI
Publication Date: 2019-01

Variant appearance in text: TP53: 970G>C; D324H
PubMed Link: 30352134
Variant Present in the following documents:
  • Main text
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: D324H
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.xls, sheet 1
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: D324H
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page