TP53 c.413C>A ;(p.A138D)

Variant ID: 17-7578517-G-T

NM_000546.5(TP53):c.413C>A;(p.A138D)

This variant was identified in 14 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: rs750600586
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 7
View BVdb publication page



CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience
Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X
Publication Date: 2022-09-16

Variant appearance in text: p53: 413C>A
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
  • mmc5.xlsx, sheet 1
View BVdb publication page



Circulating tumor DNA to guide rechallenge with panitumumab in metastatic colorectal cancer: the phase 2 CHRONOS trial.

Nature Medicine
Sartore-Bianchi, Andrea A; Pietrantonio, Filippo F; Lonardi, Sara S; Mussolin, Benedetta B; Rua, Francesco F; Crisafulli, Giovanni G; Bartolini, Alice A; Fenocchio, Elisabetta E; Amatu, Alessio A; Manca, Paolo P; Bergamo, Francesca F; Tosi, Federica F; Mauri, Gianluca G; Ambrosini, Margherita M; Daniel, Francesca F; Torri, Valter V; Vanzulli, Angelo A; Regge, Daniele D; Cappello, Giovanni G; Marchiò, Caterina C; Berrino, Enrico E; Sapino, Anna A; Marsoni, Silvia S; Siena, Salvatore S; Bardelli, Alberto A
Publication Date: 2022-08

Variant appearance in text: TP53: A138D
PubMed Link: 35915157
Variant Present in the following documents:
  • 41591_2022_1886_MOESM1_ESM.pdf
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: 413C>A; Ala138Asp
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: TP53: A138D
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Evaluation of circulating tumor DNA as a biomarker in pancreatic cancer with liver metastasis.

Plos One
Uesato, Yasunori Y; Sasahira, Naoki N; Ozaka, Masato M; Sasaki, Takashi T; Takatsuki, Mitsuhisa M; Zembutsu, Hitoshi H
Publication Date: 2020

Variant appearance in text: TP53: A138D
PubMed Link: 32614932
Variant Present in the following documents:
  • pone.0235623.s001.xlsx, sheet 1
View BVdb publication page



Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology
Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR
Publication Date: 2019-04

Variant appearance in text: TP53: A138D
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
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: 413C>A; Ala138Asp
PubMed Link: 30886117
Variant Present in the following documents:
  • supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1
View BVdb publication page



Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-13

Variant appearance in text: TP53: Ala138Asp
PubMed Link: 30545397
Variant Present in the following documents:
  • 13045_2018_679_MOESM2_ESM.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: A138D
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.xls, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: TP53: A138D
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.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: A138D
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Targeting the p53 Pathway in Ewing Sarcoma.

Sarcoma
Neilsen, Paul M PM; Pishas, Kathleen I KI; Callen, David F DF; Thomas, David M DM
Publication Date: 2011

Variant appearance in text: TP53: A138D
PubMed Link: 21197471
Variant Present in the following documents:
  • Main text
  • SRCM2011-746939.pdf
View BVdb publication page



Effects of p53 mutants derived from lung carcinomas on the p53-responsive element (p53RE) of the MDM2 gene.

British Journal Of Cancer
Gorgoulis, V G VG; Zacharatos, P V PV; Manolis, E E; Ikonomopoulos, J A JA; Damalas, A A; Lamprinopoulos, C C; Rassidakis, G Z GZ; Zoumpourlis, V V; Kotsinas, A A; Rassidakis, A N AN; Halazonetis, T D TD; Kittas, C C
Publication Date: 1998

Variant appearance in text: p53: A138D
PubMed Link: 9472631
Variant Present in the following documents:
  • brjcancer00079-0026.pdf
View BVdb publication page