TP53 c.649G>A ;(p.V217M)

Variant ID: 17-7578200-C-T

NM_000546.5(TP53):c.649G>A;(p.V217M)

This variant was identified in 27 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: TP53: V217M
PubMed Link: 36561320
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
  • 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: 649G>A
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
  • mmc5.xlsx, sheet 1
View BVdb publication page



Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: TP53: 649G>A; V217I
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.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: 649G>A; Val217Met; rs35163653
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
  • 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: rs35163653
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: rs35163653
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



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: TP53: V217M
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



TP53 Mutation Analysis in Gastric Cancer and Clinical Outcomes of Patients with Metastatic Disease Treated with Ramucirumab/Paclitaxel or Standard Chemotherapy.

Cancers
Graziano, Francesco F; Fischer, Nicholas W NW; Bagaloni, Irene I; Di Bartolomeo, Maria M; Lonardi, Sara S; Vincenzi, Bruno B; Perrone, Giuseppe G; Fornaro, Lorenzo L; Ongaro, Elena E; Aprile, Giuseppe G; Bisonni, Renato R; Prisciandaro, Michele M; Malkin, David D; Gariépy, Jean J; Fassan, Matteo M; Loupakis, Fotios F; Sarti, Donatella D; Del Prete, Michela M; Catalano, Vincenzo V; Alessandroni, Paolo P; Magnani, Mauro M; Ruzzo, Annamaria A
Publication Date: 2020-07-24

Variant appearance in text: TP53: V217M
PubMed Link: 32722340
Variant Present in the following documents:
  • Main text
  • cancers-12-02049.pdf
View BVdb publication page



Defining relative mutational difficulty to understand cancer formation.

Cell Discovery
Shan, Lin L; Yu, Jiao J; He, Zhengjin Z; Chen, Shishuang S; Liu, Mingxian M; Ding, Hongyu H; Xu, Liang L; Zhao, Jie J; Yang, Ailing A; Jiang, Hai H
Publication Date: 2020

Variant appearance in text: p53: V217M
PubMed Link: 32704382
Variant Present in the following documents:
  • 41421_2020_177_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Associations among smoking, MGMT hypermethylation, TP53-mutations, and relapse in head and neck squamous cell carcinoma.

Plos One
Matsuda, Shinichi S; Mafune, Aki A; Kohda, Nagisa N; Hama, Takanori T; Urashima, Mitsuyoshi M
Publication Date: 2020

Variant appearance in text: TP53: V217M
PubMed Link: 32324779
Variant Present in the following documents:
  • Main text
View BVdb publication page



Understanding oncogenicity of cancer driver genes and mutations in the cancer genomics era.

Febs Letters
Porta-Pardo, Eduard E; Valencia, Alfonso A; Godzik, Adam A
Publication Date: 2020-12

Variant appearance in text: TP53: V217M; rs35163653
PubMed Link: 32239503
Variant Present in the following documents:
  • Main text
  • FEB2-594-4233.pdf
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: V217M
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: 649G>A; Val217Met
PubMed Link: 30886117
Variant Present in the following documents:
  • supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1
View BVdb publication page



Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer.

Genomics & Informatics
Yoon, Kyong-Ah KA; Woo, Sang Myung SM; Kim, Yun-Hee YH; Kong, Sun-Young SY; Han, Sung-Sik SS; Park, Sang-Jae SJ; Lee, Woo Jin WJ
Publication Date: 2018-12

Variant appearance in text: TP53: 649G>A
PubMed Link: 30602096
Variant Present in the following documents:
  • Main text
  • gi-2018-16-4-e35.pdf
View BVdb publication page



Functional characterization of the p53 "mutome".

Molecular & Cellular Oncology
Kotler, Eran E; Segal, Eran E; Oren, Moshe M
Publication Date: 2018

Variant appearance in text: rs35163653
PubMed Link: 30525089
Variant Present in the following documents:
  • Main text
View BVdb publication page



Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: rs35163653
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 3
View BVdb publication page



Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Plos One
Bennett, Thomas M TM; M'Hamdi, Oussama O; Hejtmancik, J Fielding JF; Shiels, Alan A
Publication Date: 2017

Variant appearance in text: TP53: V217M; rs35163653
PubMed Link: 29267365
Variant Present in the following documents:
  • pone.0189881.s008.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: V217M
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs35163653
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, 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: V217M
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One
Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M
Publication Date: 2015

Variant appearance in text: rs35163653
PubMed Link: 26010451
Variant Present in the following documents:
  • pone.0127146.s014.xlsx, sheet 3
View BVdb publication page



Homozygous deletions of UGT2B17 modifies effects of smoking on TP53-mutations and relapse of head and neck carcinoma.

Bmc Cancer
Mafune, Aki A; Hama, Takanori T; Suda, Toshihito T; Suzuki, Yutaka Y; Ikegami, Masahiro M; Sakanashi, Chikako C; Imai, Satoko S; Nakashima, Akio A; Yokoo, Takashi T; Wada, Kota K; Kojima, Hiromi H; Urashima, Mitsuyoshi M
Publication Date: 2015-03-31

Variant appearance in text: TP53: V217M
PubMed Link: 25886176
Variant Present in the following documents:
  • Main text
  • 12885_2015_Article_1220.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: V217M
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Computational screening and molecular dynamic simulation of breast cancer associated deleterious non-synonymous single nucleotide polymorphisms in TP53 gene.

Plos One
Chitrala, Kumaraswamy Naidu KN; Yeguvapalli, Suneetha S
Publication Date: 2014

Variant appearance in text: TP53: V217M; rs35163653
PubMed Link: 25105660
Variant Present in the following documents:
  • Main text
  • pone.0104242.pdf
View BVdb publication page



Distinct effects of alcohol consumption and smoking on genetic alterations in head and neck carcinoma.

Plos One
Urashima, Mitsuyoshi M; Hama, Takanori T; Suda, Toshihito T; Suzuki, Yutaka Y; Ikegami, Masahiro M; Sakanashi, Chikako C; Akutsu, Taisuke T; Amagaya, Suguru S; Horiuchi, Kazuhumi K; Imai, Yu Y; Mezawa, Hidetoshi H; Noya, Miki M; Nakashima, Akio A; Mafune, Aki A; Kato, Takakuni T; Kojima, Hiromi H
Publication Date: 2013

Variant appearance in text: TP53: V217M
PubMed Link: 24278325
Variant Present in the following documents:
  • Main text
  • pone.0080828.pdf
View BVdb publication page



Mapping the p53 transcriptome universe using p53 natural polymorphs.

Cell Death And Differentiation
Wang, B B; Niu, D D; Lam, T H TH; Xiao, Z Z; Ren, E C EC
Publication Date: 2014-04

Variant appearance in text: p53: V217M
PubMed Link: 24076587
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cancer-associated p53 tetramerization domain mutants: quantitative analysis reveals a low threshold for tumor suppressor inactivation.

The Journal Of Biological Chemistry
Kamada, Rui R; Nomura, Takao T; Anderson, Carl W CW; Sakaguchi, Kazuyasu K
Publication Date: 2011-01-07

Variant appearance in text: TP53: V217M
PubMed Link: 20978130
Variant Present in the following documents:
  • Main text
View BVdb publication page



TP53 mutations in human cancers: origins, consequences, and clinical use.

Cold Spring Harbor Perspectives In Biology
Olivier, Magali M; Hollstein, Monica M; Hainaut, Pierre P
Publication Date: 2010-01

Variant appearance in text: TP53: 649G>A
PubMed Link: 20182602
Variant Present in the following documents:
  • Main text
View BVdb publication page