TP53 c.145G>C ;(p.D49H)

Variant ID: 17-7579542-C-G

NM_000546.5(TP53):c.145G>C;(p.D49H)

This variant was identified in 42 publications

View GRCh38 version.




Publications:


Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics
Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB
Publication Date: 2023

Variant appearance in text: TP53: D49H
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Cancer Science
Kage, Hidenori H; Shinozaki-Ushiku, Aya A; Ishigaki, Kazunaga K; Sato, Yusuke Y; Tanabe, Masahiko M; Tanaka, Shota S; Tanikawa, Michihiro M; Watanabe, Kousuke K; Kato, Shingo S; Akagi, Kiwamu K; Uchino, Keita K; Mitani, Kinuko K; Takahashi, Shunji S; Miura, Yuji Y; Ikeda, Sadakatsu S; Kojima, Yasushi Y; Watanabe, Kiyotaka K; Mochizuki, Hitoshi H; Yamaguchi, Hironori H; Kawazoe, Yoshimasa Y; Kashiwabara, Kosuke K; Kohsaka, Shinji S; Tatsuno, Kenji K; Ushiku, Tetsuo T; Ohe, Kazuhiko K; Yatomi, Yutaka Y; Seto, Yasuyuki Y; Aburatani, Hiroyuki H; Mano, Hiroyuki H; Miyagawa, Kiyoshi K; Oda, Katsutoshi K
Publication Date: 2023-01-05

Variant appearance in text: TP53: 145G>C; D49H
PubMed Link: 36601953
Variant Present in the following documents:
  • CAS-114-1710-s001.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: rs587780728
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 7
View BVdb publication page



High-dose extended-field radiotherapy plus chemotherapy improved survival in extranodal NK/T-cell lymphoma in a real-life setting: results from the multicenter T-Cell Brazil Project.

Scientific Reports
de Pádua Covas Lage, Luís Alberto LA; Machado, Pedro Paulo Faust PPF; Reichert, Cadiele Oliana CO; Miranda, Eliana E; Culler, Hebert Fabrício HF; da Siqueira, Sheila Aparecida Coelho SAC; de Oliveira Costa, Renata R; Miyashiro, Dênis Ricardo DR; Sanches, José Antônio JA; Rocha, Vanderson V; Chiattone, Carlos Sérgio CS; Pereira, Juliana J
Publication Date: 2022-11-29

Variant appearance in text: TP53: D49H
PubMed Link: 36446856
Variant Present in the following documents:
  • 41598_2022_Article_25034.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: 145G>C
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: TP53: D49H
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Breast Cancer Phenotype Associated With Li-Fraumeni Syndrome: A Brazilian Cohort Enriched by TP53 p.R337H Carriers.

Frontiers In Oncology
Sandoval, Renata Lazari RL; Polidorio, Natalia N; Leite, Ana Carolina Rathsam ACR; Cartaxo, Mariana M; Pisani, Janina Pontes JP; Quirino, Carla Vanessa CV; Cezana, Loureno L; Pereira, Natálya Gonçalves NG; Pereira, Allan Andresson Lima AAL; Rossi, Benedito Mauro BM; Achatz, Maria Isabel MI
Publication Date: 2022

Variant appearance in text: TP53: D49H
PubMed Link: 35371985
Variant Present in the following documents:
  • Main text
  • fonc-12-836937.pdf
View BVdb publication page



Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Cancer Science
Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K
Publication Date: 2022-04

Variant appearance in text: TP53: 145G>C; rs587780728
PubMed Link: 35218119
Variant Present in the following documents:
  • CAS-113-1451-s002.xlsx, sheet 1
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: TP53: D49H
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
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: 145G>C; Asp49His; rs587780728
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Pitfalls in the Diagnosis of Nodular Lymphocyte Predominant Hodgkin Lymphoma: Variant Patterns, Borderlines and Mimics.

Cancers
Younes, Sheren S; Rojansky, Rebecca B RB; Menke, Joshua R JR; Gratzinger, Dita D; Natkunam, Yasodha Y
Publication Date: 2021-06-16

Variant appearance in text: TP53: D49H
PubMed Link: 34208705
Variant Present in the following documents:
  • cancers-13-03021.pdf
View BVdb publication page



Characteristics of Li-Fraumeni Syndrome in Japan; A Review Study by the Special Committee of JSHT.

Cancer Science
Funato, Michinori M; Tsunematsu, Yukiko Y; Yamazaki, Fumito F; Tamura, Chieko C; Kumamoto, Tadashi T; Takagi, Masatoshi M; Kato, Shunsuke S; Sugimura, Haruhiko H; Tamura, Kazuo K
Publication Date: 2021-05-01

Variant appearance in text: TP53: Asp49His
PubMed Link: 33932062
Variant Present in the following documents:
  • Main text
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: D49H
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
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: 145G>C; rs587780728
PubMed Link: 33257846
Variant Present in the following documents:
  • Main text
  • 41418_2020_672_MOESM4_ESM.xlsx, sheet 3
  • 41418_2020_672_MOESM4_ESM.xlsx, sheet 6
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
  • 41418_2020_672_MOESM2_ESM.pdf
  • 41418_2020_672_MOESM4_ESM.xlsx, sheet 8
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 4
  • 41418_2020_672_MOESM4_ESM.xlsx, sheet 4
  • 41418_2020_Article_672.pdf
  • 41418_2020_672_MOESM5_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: TP53: 145G>C; rs587780728
PubMed Link: 33257846
Variant Present in the following documents:
  • Main text
  • 41418_2020_672_MOESM4_ESM.xlsx, sheet 3
  • 41418_2020_672_MOESM4_ESM.xlsx, sheet 6
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
  • 41418_2020_672_MOESM2_ESM.pdf
  • 41418_2020_672_MOESM4_ESM.xlsx, sheet 8
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 4
  • 41418_2020_672_MOESM4_ESM.xlsx, sheet 4
  • 41418_2020_Article_672.pdf
  • 41418_2020_672_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Multiple biochemical properties of the p53 molecule contribute to activation of polymerase iota-dependent DNA damage tolerance.

Nucleic Acids Research
Biber, Stephanie S; Pospiech, Helmut H; Gottifredi, Vanesa V; Wiesmüller, Lisa L
Publication Date: 2020-12-02

Variant appearance in text: p53: D49H
PubMed Link: 33166398
Variant Present in the following documents:
  • Main text
  • gkaa974.pdf
View BVdb publication page



Integrated genetic and epigenetic analysis of cancer-related genes in non-ampullary duodenal adenomas and intramucosal adenocarcinomas.

The Journal Of Pathology
Ota, Ryosuke R; Sawada, Takeshi T; Tsuyama, Sho S; Sasaki, Yasushi Y; Suzuki, Hiromu H; Kaizaki, Yasuharu Y; Hasatani, Kenkei K; Yamamoto, Eiichiro E; Nakanishi, Hiroyoshi H; Inagaki, Satoko S; Tsuji, Shigetsugu S; Yoshida, Naohiro N; Doyama, Hisashi H; Minato, Hiroshi H; Nakamura, Keishi K; Kasashima, Satomi S; Kubota, Eiji E; Kataoka, Hiromi H; Tokino, Takashi T; Yao, Takashi T; Minamoto, Toshinari T
Publication Date: 2020-11

Variant appearance in text: TP53: Asp49His
PubMed Link: 32770675
Variant Present in the following documents:
  • PATH-252-330-s002.xlsx, sheet 8
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: D49H
PubMed Link: 32704382
Variant Present in the following documents:
  • 41421_2020_177_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with MSH2 Germline Pathogenic Variants.

Cancers
de Angelis de Carvalho, Nathália N; Niitsuma, Bianca Naomi BN; Kozak, Vanessa Nascimento VN; Costa, Felipe D'almeida FD; de Macedo, Mariana Petaccia MP; Kupper, Bruna Elisa Catin BEC; Silva, Maria Letícia Gobo MLG; Formiga, Maria Nirvana MN; Volc, Sahlua Miguel SM; Aguiar Junior, Samuel S; Palmero, Edenir Inez EI; Casali-da-Rocha, José Cláudio JC; Carraro, Dirce Maria DM; Torrezan, Giovana Tardin GT
Publication Date: 2020-07-09

Variant appearance in text: TP53: Asp49His
PubMed Link: 32659967
Variant Present in the following documents:
  • Main text
  • cancers-12-01848-s001.pdf
  • cancers-12-01848.pdf
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: TP53: D49H
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Significance of gene mutations in the Wnt signaling pathway in traditional serrated adenomas of the colon and rectum.

Plos One
Nakanishi, Hiroyoshi H; Sawada, Takeshi T; Kaizaki, Yasuharu Y; Ota, Ryosuke R; Suzuki, Hiromu H; Yamamoto, Eiichiro E; Aoki, Hironori H; Eizuka, Makoto M; Hasatani, Kenkei K; Takahashi, Naoki N; Inagaki, Satoko S; Ebi, Masahide M; Kato, Hiroyuki H; Kubota, Eiji E; Kataoka, Hiromi H; Takahashi, Satoru S; Tokino, Takashi T; Minamoto, Toshinari T; Sugai, Tamotsu T; Sasaki, Yasushi Y
Publication Date: 2020

Variant appearance in text: TP53: Asp49His
PubMed Link: 32092099
Variant Present in the following documents:
  • pone.0229262.s007.xlsx, sheet 1
View BVdb publication page



PTEN deletion drives acute myeloid leukemia resistance to MEK inhibitors.

Oncotarget
Smith, Amanda M AM; Zhang, Christine R C CRC; Cristino, Alexandre S AS; Grady, John P JP; Fink, J Lynn JL; Moore, Andrew S AS
Publication Date: 2019-10-08

Variant appearance in text: TP53: D49H
PubMed Link: 31645898
Variant Present in the following documents:
  • Main text
  • oncotarget-10-5755.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: D49H
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Incidence and distribution of UroSEEK gene panel in a multi-institutional cohort of bladder urothelial carcinoma.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Eich, Marie-Lisa ML; Rodriguez Pena, Maria Del Carmen MDC; Springer, Simeon U SU; Taheri, Diana D; Tregnago, Aline C AC; Salles, Daniela C DC; Bezerra, Stephania Martins SM; Cunha, Isabela W IW; Fujita, Kazutoshi K; Ertoy, Dilek D; Bivalacqua, Trinity J TJ; Tomasetti, Cristian C; Papadopoulos, Nickolas N; Kinzler, Ken W KW; Vogelstein, Bert B; Netto, George J GJ
Publication Date: 2019-10

Variant appearance in text: TP53: D49H
PubMed Link: 31028363
Variant Present in the following documents:
  • NIHMS1525315-supplement-2.xlsx, sheet 1
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: TP53: 145G>C; Asp49His
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.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: 145G>C; Asp49His
PubMed Link: 30886117
Variant Present in the following documents:
  • supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1
View BVdb publication page



Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04

Variant appearance in text: TP53: 145G>C; Asp49His; rs587780728
PubMed Link: 30287823
Variant Present in the following documents:
  • 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
  • 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



IDH-mutated astrocytomas with 19q-loss constitute a subgroup that confers better prognosis.

Cancer Science
Otani, Ryohei R; Uzuka, Takeo T; Higuchi, Fumi F; Matsuda, Hadzki H; Nomura, Masashi M; Tanaka, Shota S; Mukasa, Akitake A; Ichimura, Koichi K; Kim, Phyo P; Ueki, Keisuke K
Publication Date: 2018-07

Variant appearance in text: TP53: D49H
PubMed Link: 29752851
Variant Present in the following documents:
  • Main text
  • CAS-109-2327.pdf
View BVdb publication page



The Relationship between TP53 Gene Status and Carboxylesterase 2 Expression in Human Colorectal Cancer.

Disease Markers
Ishimine, Momoko M; Lee, Hyeon-Cheol HC; Nakaoka, Hirofumi H; Orita, Hajime H; Kobayashi, Toshiyuki T; Mizuguchi, Konomi K; Endo, Mikumi M; Inoue, Ituro I; Sato, Koichi K; Yokomizo, Takehiko T
Publication Date: 2018

Variant appearance in text: TP53: D49H
PubMed Link: 29651325
Variant Present in the following documents:
  • 5280736.f1.pdf
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: 145G>C; D49H
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_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: 145G>C; Asp49His
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Comprehensive screening of target molecules by next-generation sequencing in patients with malignant solid tumors: guiding entry into phase I clinical trials.

Molecular Cancer
Tanabe, Yuko Y; Ichikawa, Hitoshi H; Kohno, Takashi T; Yoshida, Hiroshi H; Kubo, Takashi T; Kato, Mamoru M; Iwasa, Satoru S; Ochiai, Atsushi A; Yamamoto, Noboru N; Fujiwara, Yasuhiro Y; Tamura, Kenji K
Publication Date: 2016-11-16

Variant appearance in text: TP53: D49H
PubMed Link: 27852271
Variant Present in the following documents:
  • 12943_2016_553_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Adaptive patterns in the p53 protein sequence of the hypoxia- and cancer-tolerant blind mole rat Spalax.

Bmc Evolutionary Biology
Domankevich, Vered V; Opatowsky, Yarden Y; Malik, Assaf A; Korol, Abraham B AB; Frenkel, Zeev Z; Manov, Irena I; Avivi, Aaron A; Shams, Imad I
Publication Date: 2016-09-02

Variant appearance in text: p53: D49H
PubMed Link: 27590526
Variant Present in the following documents:
  • Main text
  • 12862_2016_Article_743.pdf
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: D49H
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.xls, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: TP53: 145G>C; D49H
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
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: D49H
PubMed Link: 26975833
Variant Present in the following documents:
  • srep23167-s9.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: D49H
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: D49H
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Discrepancies in cancer genomic sequencing highlight opportunities for driver mutation discovery.

Cancer Research
Hudson, Andrew M AM; Yates, Tim T; Li, Yaoyong Y; Trotter, Eleanor W EW; Fawdar, Shameem S; Chapman, Phil P; Lorigan, Paul P; Biankin, Andrew A; Miller, Crispin J CJ; Brognard, John J
Publication Date: 2014-11-15

Variant appearance in text: TP53: D49H
PubMed Link: 25256751
Variant Present in the following documents:
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Inactivation of p53 rescues the maintenance of high risk HPV DNA genomes deficient in expression of E6.

Plos Pathogens
Lorenz, Laurel D LD; Rivera Cardona, Jessenia J; Lambert, Paul F PF
Publication Date: 2013-10

Variant appearance in text: p53: D49H
PubMed Link: 24204267
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DNA profiling analysis of endometrial and ovarian cell lines reveals misidentification, redundancy and contamination.

Gynecologic Oncology
Korch, Christopher C; Spillman, Monique A MA; Jackson, Twila A TA; Jacobsen, Britta M BM; Murphy, Susan K SK; Lessey, Bruce A BA; Jordan, V Craig VC; Bradford, Andrew P AP
Publication Date: 2012-10

Variant appearance in text: TP53: Asp49His
PubMed Link: 22710073
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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: TP53: D49H
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
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The (1-63) region of the p53 transactivation domain aggregates in vitro into cytotoxic amyloid assemblies.

Biophysical Journal
Rigacci, Stefania S; Bucciantini, Monica M; Relini, Annalisa A; Pesce, Alessandra A; Gliozzi, Alessandra A; Berti, Andrea A; Stefani, Massimo M
Publication Date: 2008-05-01

Variant appearance in text: p53: D49H
PubMed Link: 18199664
Variant Present in the following documents:
  • Main text
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