TP53 c.641A>T ;(p.H214L)

Variant ID: 17-7578208-T-A

NM_000546.5(TP53):c.641A>T;(p.H214L)

This variant was identified in 27 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: TP53: 641A>T; His214Leu
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



ESR1 gene amplification and MAP3K mutations are selected during adjuvant endocrine therapies in relapsing Hormone Receptor-positive, HER2-negative breast cancer (HR+ HER2- BC).

Plos Genetics
Ferrando, Lorenzo L; Vingiani, Andrea A; Garuti, Anna A; Vernieri, Claudio C; Belfiore, Antonino A; Agnelli, Luca L; Dagrada, Gianpaolo G; Ivanoiu, Diana D; Bonizzi, Giuseppina G; Munzone, Elisabetta E; Lippolis, Luana L; Dameri, Martina M; Ravera, Francesco F; Colleoni, Marco M; Viale, Giuseppe G; Magnani, Luca L; Ballestrero, Alberto A; Zoppoli, Gabriele G; Pruneri, Giancarlo G
Publication Date: 2023-01-03

Variant appearance in text: rs1057519992
PubMed Link: 36595552
Variant Present in the following documents:
  • pgen.1010563.s004.xlsx, sheet 1
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: TP53: H214L
PubMed Link: 36561320
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
  • Table2.xlsx, sheet 7
View BVdb publication page



Complex molecular profile of DNA repair genes in epithelial ovarian carcinoma patients with different sensitivity to platinum-based therapy.

Frontiers In Oncology
Seborova, Karolina K; Hlavac, Viktor V; Holy, Petr P; Bjørklund, Sunniva S SS; Fleischer, Thomas T; Rob, Lukas L; Hruda, Martin M; Bouda, Jiri J; Mrhalova, Marcela M; Allah, Mohammad Moufaq Khatar Al Obeed MMKAO; Vodicka, Pavel P; Fiala, Ondrej O; Soucek, Pavel P; Kristensen, Vessela N VN; Vodickova, Ludmila L; Vaclavikova, Radka R
Publication Date: 2022

Variant appearance in text: rs1057519992
PubMed Link: 36531044
Variant Present in the following documents:
  • DataSheet_1.pdf
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: 641A>T
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
  • mmc5.xlsx, sheet 1
View BVdb publication page



Integrated cohort of esophageal squamous cell cancer reveals genomic features underlying clinical characteristics.

Nature Communications
Li, Minghao M; Zhang, Zicheng Z; Wang, Qianrong Q; Yi, Yan Y; Li, Baosheng B
Publication Date: 2022-09-07

Variant appearance in text: TP53: H214L
PubMed Link: 36071046
Variant Present in the following documents:
  • 41467_2022_32962_MOESM15_ESM.xlsx, sheet 22
View BVdb publication page



Landscape of somatic alterations in large-scale solid tumors from an Asian population.

Nature Communications
Wu, Liqun L; Yao, Herui H; Chen, Hui H; Wang, Aodi A; Guo, Kun K; Gou, Wenli W; Yu, Yanfei Y; Li, Xiang X; Yao, Ming M; Yuan, Shaohua S; Pang, Fei F; Hu, Jinwei J; Chen, Lijuan L; Liu, Wenjin W; Yao, Jicheng J; Zhang, Shuirong S; Dong, Xiaowei X; Wang, Weifeng W; Hu, Jing J; Ling, Qi Q; Ding, Songming S; Wei, Yan Y; Li, Qiang Q; Cao, Weichun W; Wang, Shuang S; Di, Yang Y; Feng, Feiling F; Zhao, Gang G; Zhang, Jian J; Huang, Ling L; Xu, Jia J; Yan, Wangjun W; Tong, Zhongsheng Z; Jiang, Da D; Ji, Tao T; Li, Qiao Q; Xu, Ling L; He, Huiying H; Shang, Liang L; Liu, Jin J; Wang, Kefeng K; Wu, Duoguang D; Shen, Jingnan J; Liu, Ye Y; Zhang, Ting T; Liang, Chaojie C; Wang, Yusheng Y; Shang, Yanhong Y; Guo, Jianji J; Liang, Guanbiao G; Xu, Shifeng S; Liu, Junfeng J; Wang, Kai K; Wang, Minghui M
Publication Date: 2022-07-23

Variant appearance in text: TP53: H214L
PubMed Link: 35871175
Variant Present in the following documents:
  • 41467_2022_31780_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Utilisation of semiconductor sequencing for the detection of predictive biomarkers in glioblastoma.

Plos One
Williams, Gareth G; Llewelyn, Alexander A; Thatcher, Robert R; Hardisty, Keeda-Marie KM; Loddo, Marco M
Publication Date: 2022

Variant appearance in text: TP53: 641A>T; His214Leu; rs1057519992
PubMed Link: 35324914
Variant Present in the following documents:
  • pone.0245817.s005.pdf
View BVdb publication page



The dominant TP53 hotspot mutation in -mutant astrocytoma, R273C, has distinctive pathologic features and sex-specific prognostic implications.

Neuro-Oncology Advances
Marker, Daniel F DF; Agnihotri, Sameer S; Amankulor, Nduka N; Murdoch, Geoffrey H GH; Pearce, Thomas M TM
Publication Date: 2022

Variant appearance in text: TP53: 641A>T; H214L
PubMed Link: 35047821
Variant Present in the following documents:
  • vdab182_suppl_supplementary_table_s1.xlsx, sheet 1
  • vdab182_suppl_supplementary_table_s1.xlsx, sheet 3
View BVdb publication page



Investigating the genomic alteration improved the clinical outcome of aged patients with lung carcinoma.

Bmc Genomics
Chen, Sixian S; Fu, Aizhen A; Lu, Yuan Y; Lu, Wei W; Chen, Yongfeng Y; Hong, Shuiqiang S; Zhou, Suli S; Xiang, Tianmin T; Zhang, Zhenzhen Z; Cai, Yongguang Y
Publication Date: 2022-01-15

Variant appearance in text: TP53: 641A>T; His214Leu
PubMed Link: 35031014
Variant Present in the following documents:
  • 12864_2021_8289_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Investigating the genomic alteration improved the clinical outcome of aged patients with lung carcinoma.

Bmc Genomics
Chen, Sixian S; Fu, Aizhen A; Lu, Yuan Y; Lu, Wei W; Chen, Yongfeng Y; Hong, Shuiqiang S; Zhou, Suli S; Xiang, Tianmin T; Zhang, Zhenzhen Z; Cai, Yongguang Y
Publication Date: 2022-01-15

Variant appearance in text: TP53: 641A>T; His214Leu
PubMed Link: 35031014
Variant Present in the following documents:
  • 12864_2021_8289_MOESM1_ESM.xlsx, sheet 1
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: 641A>T; H214L
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology
Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN
Publication Date: 2021

Variant appearance in text: TP53: H214L
PubMed Link: 34113354
Variant Present in the following documents:
  • Table_1.xlsx, sheet 11
View BVdb publication page



Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications
Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L
Publication Date: 2021-04-19

Variant appearance in text: TP53: H214L
PubMed Link: 33875650
Variant Present in the following documents:
  • 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports
Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O
Publication Date: 2020-10-13

Variant appearance in text: rs1057519992
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
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: H214L
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
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: H214L
PubMed Link: 32704382
Variant Present in the following documents:
  • 41421_2020_177_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Simplified molecular classification of lung adenocarcinomas based on EGFR, KRAS, and TP53 mutations.

Bmc Cancer
Ruiz-Cordero, Roberto R; Ma, Junsheng J; Khanna, Abha A; Lyons, Genevieve G; Rinsurongkawong, Waree W; Bassett, Roland R; Guo, Ming M; Routbort, Mark J MJ; Zhang, Jianjun J; Skoulidis, Ferdinandos F; Heymach, John J; Roarty, Emily B EB; Tang, Zhenya Z; Medeiros, L Jeffrey LJ; Patel, Keyur P KP; Luthra, Rajyalakshmi R; Roy-Chowdhuri, Sinchita S
Publication Date: 2020-01-31

Variant appearance in text: TP53: H214L
PubMed Link: 32005111
Variant Present in the following documents:
  • 12885_2020_6579_MOESM2_ESM.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: H214L
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: 641A>T; His214Leu
PubMed Link: 30886117
Variant Present in the following documents:
  • supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1
View BVdb publication page



Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer
Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L
Publication Date: 2019-02-01

Variant appearance in text: TP53: 641A>T; H214L
PubMed Link: 30709382
Variant Present in the following documents:
  • 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.

Scientific Reports
Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U
Publication Date: 2018-09-10

Variant appearance in text: TP53: H214L
PubMed Link: 30202034
Variant Present in the following documents:
  • 41598_2018_31659_MOESM2_ESM.xlsx, sheet 30
View BVdb publication page



Analytic validation and real-time clinical application of an amplicon-based targeted gene panel for advanced cancer.

Oncotarget
Wing, Michele R MR; Reeser, Julie W JW; Smith, Amy M AM; Reeder, Matthew M; Martin, Dorrelyn D; Jewell, Benjamin M BM; Datta, Jharna J; Miya, Jharna J; Monk, J Paul JP; Mortazavi, Amir A; Otterson, Gregory A GA; Goldberg, Richard M RM; VanDeusen, Jeffrey B JB; Cole, Sharon S; Dittmar, Kristin K; Jaiswal, Sunny S; Kinzie, Matthew M; Waikhom, Suraj S; Freud, Aharon G AG; Zhou, Xiao-Ping XP; Chen, Wei W; Bhatt, Darshna D; Roychowdhury, Sameek S
Publication Date: 2017-09-29

Variant appearance in text: TP53: 641A>T; His214Leu
PubMed Link: 29100271
Variant Present in the following documents:
  • oncotarget-08-75822-s008.xlsx, sheet 1
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: TP53: H214L
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
  • 41467_2017_289_MOESM3_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: H214L
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.xls, sheet 1
View BVdb publication page



REGene: a literature-based knowledgebase of animal regeneration that bridge tissue regeneration and cancer.

Scientific Reports
Zhao, Min M; Rotgans, Bronwyn B; Wang, Tianfang T; Cummins, S F SF
Publication Date: 2016-03-15

Variant appearance in text: TP53: H214L
PubMed Link: 26975833
Variant Present in the following documents:
  • srep23167-s9.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: H214L
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: H214L
PubMed Link: 21197471
Variant Present in the following documents:
  • Main text
  • SRCM2011-746939.pdf
View BVdb publication page