TP53 c.168A>G ;(p.E56=)

Variant ID: 17-7579519-T-C

NM_000546.5(TP53):c.168A>G;(p.E56=)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


High proliferation and delamination during skin epidermal stratification.

Nature Communications
Damen, Mareike M; Wirtz, Lisa L; Soroka, Ekaterina E; Khatif, Houda H; Kukat, Christian C; Simons, Benjamin D BD; Bazzi, Hisham H
Publication Date: 2021-05-28

Variant appearance in text: p53: E56E
PubMed Link: 34050161
Variant Present in the following documents:
  • Main text
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: rs574255227
PubMed Link: 33257846
Variant Present in the following documents:
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
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: rs574255227
PubMed Link: 33257846
Variant Present in the following documents:
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: TP53: e56e
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Bayesian Semiparametric Estimation of Cancer-specific Age-at-onset Penetrance with Application to Li-Fraumeni Syndrome.

Journal Of The American Statistical Association
Shin, Seung Jun SJ; Yuan, Ying Y; Strong, Louise C LC; Bojadzieva, Jasmina J; Wang, Wenyi W
Publication Date: 2019

Variant appearance in text: TP53: E56E
PubMed Link: 31485091
Variant Present in the following documents:
  • Main text
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: 168A>G; Glu56=
PubMed Link: 30886117
Variant Present in the following documents:
  • supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1
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: TP53: E56E
PubMed Link: 30224644
Variant Present in the following documents:
  • NIHMS1501645-supplement-4.xlsx, sheet 1
View BVdb publication page



MIR-137 suppresses growth and invasion, is downregulated in oligodendroglial tumors and targets CSE1L.

Brain Pathology (Zurich, Switzerland)
Li, Kay Ka-Wai KK; Yang, Ling L; Pang, Jesse Chung-Sean JC; Chan, Aden Ka-Yin AK; Zhou, Liangfu L; Mao, Ying Y; Wang, Yin Y; Lau, Kin-Mang KM; Poon, Wai Sang WS; Shi, Zhifeng Z; Ng, Ho-Keung HK
Publication Date: 2013-07

Variant appearance in text: p53: E56E
PubMed Link: 23252729
Variant Present in the following documents:
  • Main text
View BVdb publication page