TP53 c.63C>T ;(p.D21=)

Variant ID: 17-7579850-G-A

NM_000546.5(TP53):c.63C>T;(p.D21=)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: TP53: 63C>T; Asp21=; rs1800369
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
  • crc-22-0136-s01.xlsx, sheet 3
View BVdb publication page



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: rs1800369
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 7
View BVdb publication page



Selective 1 Hα NMR Methods Reveal Functionally Relevant Proline cis/trans Isomers in Intrinsically Disordered Proteins: Characterization of Minor Forms, Effects of Phosphorylation, and Occurrence in Proteome.

Angewandte Chemie (International Ed. In English)
Sebák, Fanni F; Ecsédi, Péter P; Bermel, Wolfgang W; Luy, Burkhard B; Nyitray, László L; Bodor, Andrea A
Publication Date: 2022-01-03

Variant appearance in text: p53: d21=
PubMed Link: 34585830
Variant Present in the following documents:
  • ANIE-61-0-s001.pdf
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: TP53: D21=; rs1800369
PubMed Link: 33257846
Variant Present in the following documents:
  • 41418_2020_672_MOESM1_ESM.pdf
  • 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: TP53: D21=; rs1800369
PubMed Link: 33257846
Variant Present in the following documents:
  • 41418_2020_672_MOESM1_ESM.pdf
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



DNA copy number motifs are strong and independent predictors of survival in breast cancer.

Communications Biology
Pladsen, Arne V AV; Nilsen, Gro G; Rueda, Oscar M OM; Aure, Miriam R MR; Borgan, Ørnulf Ø; Liestøl, Knut K; Vitelli, Valeria V; Frigessi, Arnoldo A; Langerød, Anita A; Mathelier, Anthony A; , ; Engebråten, Olav O; Kristensen, Vessela V; Wedge, David C DC; Van Loo, Peter P; Caldas, Carlos C; Børresen-Dale, Anne-Lise AL; Russnes, Hege G HG; Lingjærde, Ole Christian OC
Publication Date: 2020-04-02

Variant appearance in text: TP53: D21D
PubMed Link: 32242091
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pattern of nucleotide variants of TP53 and their correlation with the expression of p53 and its downstream proteins in a Sri Lankan cohort of breast and colorectal cancer patients.

Bmc Cancer
Manoharan, Vahinipriya V; Karunanayake, Eric Hamilton EH; Tennekoon, Kamani Hemamala KH; De Silva, Sumadee S; Imthikab, Ahamed Ilyas Ahamed AIA; De Silva, Kanishka K; Angunawela, Preethika P; Vishwakula, Sameera S; Lunec, John J
Publication Date: 2020-01-30

Variant appearance in text: TP53: Asp21Asp; rs1800369
PubMed Link: 32000721
Variant Present in the following documents:
  • Main text
  • 12885_2020_Article_6573.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: 63C>T; Asp21=
PubMed Link: 30886117
Variant Present in the following documents:
  • supp_mcs.a003921_Supplemental_Table_2.xlsx, sheet 1
  • supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1
View BVdb publication page



Nucleotide variants and protein expression of TP53 in a Sri Lankan cohort of patients with head and neck cancer.

Molecular Medicine Reports
Manoharan, Vahinipriya V; Karunanayake, Eric Hamilton EH; Tennekoon, Kamani Hemamala KH; De Silva, Sumadee S; De Silva, Kanishka K; Angunawela, Preethika P; Lunec, John J
Publication Date: 2019-04

Variant appearance in text: p53: 63C>T; Asp21Asp; rs1800369
PubMed Link: 30816478
Variant Present in the following documents:
  • Main text
  • mmr-19-04-2781.pdf
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: D21D
PubMed Link: 30224644
Variant Present in the following documents:
  • NIHMS1501645-supplement-4.xlsx, sheet 1
View BVdb publication page



Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.

Scientific Reports
Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; Brünner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L
Publication Date: 2017-11-10

Variant appearance in text: TP53: 63C>T
PubMed Link: 29127303
Variant Present in the following documents:
  • 41598_2017_14909_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: TP53: 63C>T; Asp21=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Analysis of host gene expression changes reveals distinct roles for the cytoplasmic domain of the Epstein-Barr virus receptor/CD21 in B-cell maturation, activation, and initiation of virus infection.

Journal Of Virology
Arredouani, Mohamed S MS; Bhasin, Manoj K MK; Sage, David R DR; Dunn, Laura K LK; Gill, Michael B MB; Agnani, Deep D; Libermann, Towia A TA; Fingeroth, Joyce D JD
Publication Date: 2014-05

Variant appearance in text: p53: D21=
PubMed Link: 24600013
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fine-mapping quantitative trait loci affecting murine external ear tissue regeneration in the LG/J by SM/J advanced intercross line.

Heredity
Cheverud, J M JM; Lawson, H A HA; Bouckaert, K K; Kossenkov, A V AV; Showe, L C LC; Cort, L L; Blankenhorn, E P EP; Bedelbaeva, K K; Gourevitch, D D; Zhang, Y Y; Heber-Katz, E E
Publication Date: 2014-05

Variant appearance in text: p53: d21=
PubMed Link: 24569637
Variant Present in the following documents:
  • Main text
View BVdb publication page



TP53 mutations in Korean patients with non-small cell lung cancer.

Journal Of Korean Medical Science
Lee, Eung Bae EB; Jin, Guang G; Lee, Shin Yup SY; Park, Ji Young JY; Kim, Min Jung MJ; Choi, Jin Eun JE; Jeon, Hyo Sung HS; Cha, Seung Ick SI; Cho, Sukki S; Kim, Chang Ho CH; Park, Tae-In TI; Jung, Tae Hoon TH; Son, Ji-Woong JW; Park, Jae Yong JY
Publication Date: 2010-05

Variant appearance in text: p53: D21D; rs1800369
PubMed Link: 20436704
Variant Present in the following documents:
  • Main text
  • jkms-25-698.pdf
View BVdb publication page



Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population.

American Journal Of Medical Genetics. Part A
Pangilinan, Faith F; Geiler, Kerry K; Dolle, Jessica J; Troendle, James J; Swanson, Deborah A DA; Molloy, Anne M AM; Sutton, Marie M; Conley, Mary M; Kirke, Peadar N PN; Scott, John M JM; Mills, James L JL; Brody, Lawrence C LC
Publication Date: 2008-10-15

Variant appearance in text: TP53: D21D; rs1800369
PubMed Link: 18798306
Variant Present in the following documents:
  • Main text
View BVdb publication page