TP53 c.444T>G ;(p.D148E)

Variant ID: 17-7578486-A-C

NM_000546.5(TP53):c.444T>G;(p.D148E)

This variant was identified in 42 publications

View GRCh38 version.




Publications:


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: 444T>G
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Emerging Evidence Highlighting the Importance of Redox Dysregulation in the Pathogenesis of Amyotrophic Lateral Sclerosis (ALS).

Frontiers In Cellular Neuroscience
Jagaraj, Cyril Jones CJ; Parakh, Sonam S; Atkin, Julie D JD
Publication Date: 2020

Variant appearance in text: p53: D148E
PubMed Link: 33679322
Variant Present in the following documents:
  • Main text
  • fncel-14-581950.pdf
View BVdb publication page



Contributions of PARP-1 rs1136410 C>T polymorphism to the development of cancer.

Journal Of Cellular And Molecular Medicine
Li, Hunian H; Zha, Yongjiu Y; Du, Fang F; Liu, Jie J; Li, Xiaoquan X; Zhao, Xu X
Publication Date: 2020-12

Variant appearance in text: TP53: D148E
PubMed Link: 33108038
Variant Present in the following documents:
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: TP53: D148E
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Molecular and structural characterization of disease-associated APE1 polymorphisms.

Dna Repair
Whitaker, Amy M AM; Stark, Wesley J WJ; Flynn, Tony S TS; Freudenthal, Bret D BD
Publication Date: 2020

Variant appearance in text: p53: D148E
PubMed Link: 32454397
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functions of the major abasic endonuclease (APE1) in cell viability and genotoxin resistance.

Mutagenesis
McNeill, Daniel R DR; Whitaker, Amy M AM; Stark, Wesley J WJ; Illuzzi, Jennifer L JL; McKinnon, Peter J PJ; Freudenthal, Bret D BD; Wilson, David M DM
Publication Date: 2020-02-13

Variant appearance in text: p53: Asp148Glu
PubMed Link: 31816044
Variant Present in the following documents:
  • Main text
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: N/A
PubMed Link: 31034466
Variant Present in the following documents:
View BVdb publication page



Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics
Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G
Publication Date: 2019-10

Variant appearance in text: TP53: 444T>G; Asp148Glu
PubMed Link: 30981987
Variant Present in the following documents:
  • jmedgenet-2018-105825supp002.xlsx, sheet 3
View BVdb publication page



Polymorphism rs1052536 in Base Excision Repair Gene Is a Risk Factor in a High-Risk Area of Neural Tube Defects in China.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Li, Guannan G; Wang, Xin X; Wang, Xiuwei X; Guan, Zhen Z; Guo, Jin J; Wang, Fang F; Zhang, Jianzhao J; Niu, Bo B; Zhang, Ting T; Wang, Jianhua J; Yang, Jian J
Publication Date: 2018-07-19

Variant appearance in text: TP53: D148E
PubMed Link: 30022792
Variant Present in the following documents:
  • medscimonit-24-5015.pdf
View BVdb publication page



Individual susceptibility to arsenic-induced diseases: the role of host genetics, nutritional status, and the gut microbiome.

Mammalian Genome : Official Journal Of The International Mammalian Genome Society
Chi, Liang L; Gao, Bei B; Tu, Pengcheng P; Liu, Chih-Wei CW; Xue, Jingchuan J; Lai, Yunjia Y; Ru, Hongyu H; Lu, Kun K
Publication Date: 2018-02

Variant appearance in text: p53: Asp148Glu
PubMed Link: 29429126
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update.

World Journal Of Gastroenterology
Sharma, Aarti A; Sharma, Kiran Lata KL; Gupta, Annapurna A; Yadav, Alka A; Kumar, Ashok A
Publication Date: 2017-06-14

Variant appearance in text: TP53: Asp148Glu
PubMed Link: 28652652
Variant Present in the following documents:
  • WJG-23-3978.pdf
View BVdb publication page



Base excision repair of oxidative DNA damage: from mechanism to disease.

Frontiers In Bioscience (Landmark Edition)
Whitaker, Amy M AM; Schaich, Matthew A MA; Smith, Mallory R MR; Flynn, Tony S TS; Freudenthal, Bret D BD
Publication Date: 2017-03-01

Variant appearance in text: p53: D148E
PubMed Link: 28199214
Variant Present in the following documents:
  • Main text
View BVdb publication page



INDELseek: detection of complex insertions and deletions from next-generation sequencing data.

Bmc Genomics
Au, Chun Hang CH; Leung, Anskar Y H AY; Kwong, Ava A; Chan, Tsun Leung TL; Ma, Edmond S K ES
Publication Date: 2017-01-05

Variant appearance in text: TP53: Asp148Glu
PubMed Link: 28056804
Variant Present in the following documents:
  • Main text
  • 12864_2016_Article_3449.pdf
View BVdb publication page



Candidate germline polymorphisms of genes belonging to the pathways of four drugs used in osteosarcoma standard chemotherapy associated with risk, survival and toxicity in non-metastatic high-grade osteosarcoma.

Oncotarget
Hattinger, Claudia M CM; Biason, Paola P; Iacoboni, Erika E; Gagno, Sara S; Fanelli, Marilù M; Tavanti, Elisa E; Vella, Serena S; Ferrari, Stefano S; Roli, Andrea A; Roncato, Rossana R; Giodini, Luciana L; Scotlandi, Katia K; Picci, Piero P; Toffoli, Giuseppe G; Serra, Massimo M
Publication Date: 2016-09-20

Variant appearance in text: TP53: Asp148Glu
PubMed Link: 27566557
Variant Present in the following documents:
  • oncotarget-07-61970.pdf
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Altered Secretory Activity of APE1/Ref-1 D148E Variants Identified in Human Patients With Bladder Cancer.

International Neurourology Journal
Lee, Yu Ran YR; Lim, Jae Sung JS; Shin, Ju Hyun JH; Choi, Sunga S; Joo, Hee Kyoung HK; Jeon, Byeong Hwa BH
Publication Date: 2016-05

Variant appearance in text: p53: D148E
PubMed Link: 27230458
Variant Present in the following documents:
  • inj-1632600-300.pdf
View BVdb publication page



Association between APE1 Asp148Glu polymorphism and the risk of urinary cancers: a meta-analysis of 18 case-control studies.

Oncotargets And Therapy
Zhong, Jie-Hui JH; Zhao, Zhen Z; Liu, Jie J; Yu, Hai-Lang HL; Zhou, Jue-Yu JY; Shi, Rong R
Publication Date: 2016

Variant appearance in text: p53: Asp148Glu
PubMed Link: 27042118
Variant Present in the following documents:
  • ott-9-1499.pdf
View BVdb publication page



Impact of reduced levels of APE1 transcripts on the survival of patients with urothelial carcinoma of the bladder.

Oncology Reports
Chantre-Justino, Mariana M; Alves, Gilda G; Britto, Constança C; Cardoso, Angélica A; Scherrer, Luciano L; Moreira, Aline dos Santos Ados S; Quirino, Raul R; Ornellas, Antonio A; Leitão, Alvaro A; Lage, Claudia C
Publication Date: 2015-10

Variant appearance in text: p53: Asp148Glu
PubMed Link: 26238022
Variant Present in the following documents:
  • Main text
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: D148E
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Genetic polymorphisms involved in folate metabolism and maternal risk for down syndrome: a meta-analysis.

Disease Markers
Balduino Victorino, Daniella D; de Godoy, Moacir Fernandes MF; Goloni-Bertollo, Eny Maria EM; Pavarino, Érika Cristina ÉC
Publication Date: 2014

Variant appearance in text: p53: Asp148Glu
PubMed Link: 25544792
Variant Present in the following documents:
  • DM2014-517504.pdf
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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: D148E
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Human AP endonuclease 1: a potential marker for the prediction of environmental carcinogenesis risk.

Oxidative Medicine And Cellular Longevity
Park, Jae Sung JS; Kim, Hye Lim HL; Kim, Yeo Jin YJ; Weon, Jong-Il JI; Sung, Mi-Kyung MK; Chung, Hai Won HW; Seo, Young Rok YR
Publication Date: 2014

Variant appearance in text: p53: D148E
PubMed Link: 25243052
Variant Present in the following documents:
  • Main text
View BVdb publication page



APE1/Ref-1 as an emerging therapeutic target for various human diseases: phytochemical modulation of its functions.

Experimental & Molecular Medicine
Thakur, Shweta S; Sarkar, Bibekananda B; Cholia, Ravi P RP; Gautam, Nandini N; Dhiman, Monisha M; Mantha, Anil K AK
Publication Date: 2014-07-18

Variant appearance in text: p53: Asp148Glu
PubMed Link: 25033834
Variant Present in the following documents:
  • Main text
View BVdb publication page



APE1 polymorphisms are associated with colorectal cancer susceptibility in Chinese Hans.

World Journal Of Gastroenterology
Zhang, Shi-Heng SH; Wang, Lin-Ang LA; Li, Zheng Z; Peng, Yu Y; Cun, Yan-Ping YP; Dai, Nan N; Cheng, Yi Y; Xiao, He H; Xiong, Yan-Li YL; Wang, Dong D
Publication Date: 2014-07-14

Variant appearance in text: p53: Asp148Glu
PubMed Link: 25024628
Variant Present in the following documents:
  • Main text
View BVdb publication page



Aberrant expression of redox protein Ape1 in colon cancer stem cells.

Oncology Letters
Lou, Debao D; Zhu, Lina L; Ding, Huawei H; Dai, Hai-Yan HY; Zou, Gang-Ming GM
Publication Date: 2014-04

Variant appearance in text: p53: Asp148Glu
PubMed Link: 24944672
Variant Present in the following documents:
  • Main text
  • ol-07-04-1078.pdf
View BVdb publication page



mCSM: predicting the effects of mutations in proteins using graph-based signatures.

Bioinformatics (Oxford, England)
Pires, Douglas E V DE; Ascher, David B DB; Blundell, Tom L TL
Publication Date: 2014-02-01

Variant appearance in text: p53: D148E
PubMed Link: 24281696
Variant Present in the following documents:
  • supp_btt691_suppl.pdf
View BVdb publication page



Arsenic-induced genotoxicity and genetic susceptibility to arsenic-related pathologies.

International Journal Of Environmental Research And Public Health
Faita, Francesca F; Cori, Liliana L; Bianchi, Fabrizio F; Andreassi, Maria Grazia MG
Publication Date: 2013-04-12

Variant appearance in text: p53: Asp148Glu
PubMed Link: 23583964
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic susceptibility to lung cancer--light at the end of the tunnel?

Carcinogenesis
Marshall, Ariela L AL; Christiani, David C DC
Publication Date: 2013-03

Variant appearance in text: TP53: Asp148Glu
PubMed Link: 23349013
Variant Present in the following documents:
  • Main text
View BVdb publication page



Base excision repair in physiology and pathology of the central nervous system.

International Journal Of Molecular Sciences
Bosshard, Matthias M; Markkanen, Enni E; van Loon, Barbara B
Publication Date: 2012-11-30

Variant appearance in text: p53: D148E
PubMed Link: 23203191
Variant Present in the following documents:
  • Main text
View BVdb publication page



The APE1 Asp/Asp genotype and the combination of APE1 Asp/Asp and hOGG1-Cys variants are associated with increased p53 mutation in non-small cell lung cancer.

Journal Of Epidemiology
Lin, Chun-Hsuan CH; Chen, Po-Ming PM; Cheng, Ya-Wen YW; Chen, Chih-Yi CY; Yuan, Chiun-Jye CJ; Lee, Huei H
Publication Date: 2012

Variant appearance in text: p53: Asp148Glu
PubMed Link: 23038158
Variant Present in the following documents:
  • Main text
  • je-22-537.pdf
View BVdb publication page



Base excision repair: contribution to tumorigenesis and target in anticancer treatment paradigms.

Current Medicinal Chemistry
Illuzzi, J L JL; Wilson, D M DM
Publication Date: 2012

Variant appearance in text: p53: Asp148Glu
PubMed Link: 22788768
Variant Present in the following documents:
  • Main text
View BVdb publication page



Oxidized base damage and single-strand break repair in mammalian genomes: role of disordered regions and posttranslational modifications in early enzymes.

Progress In Molecular Biology And Translational Science
Hegde, Muralidhar L ML; Izumi, Tadahide T; Mitra, Sankar S
Publication Date: 2012

Variant appearance in text: p53: Asp148Glu
PubMed Link: 22749145
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: D148E
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Genetic polymorphisms of multiple DNA repair pathways impact age at diagnosis and TP53 mutations in breast cancer.

Carcinogenesis
Smith, Tasha R TR; Liu-Mares, Wen W; Van Emburgh, Beth O BO; Levine, Edward A EA; Allen, Glenn O GO; Hill, Jeff W JW; Reis, Isildinha M IM; Kresty, Laura A LA; Pegram, Mark D MD; Miller, Mark S MS; Hu, Jennifer J JJ
Publication Date: 2011-09

Variant appearance in text: TP53: D148E
PubMed Link: 21700777
Variant Present in the following documents:
  • Main text
View BVdb publication page



Involvement of oxidatively damaged DNA and repair in cancer development and aging.

American Journal Of Translational Research
Tudek, Barbara B; Winczura, Alicja A; Janik, Justyna J; Siomek, Agnieszka A; Foksinski, Marek M; Oliński, Ryszard R
Publication Date: 2010-05-15

Variant appearance in text: TP53: Asp148Glu
PubMed Link: 20589166
Variant Present in the following documents:
  • Main text
View BVdb publication page



XRCC1, but not APE1 and hOGG1 gene polymorphisms is a risk factor for pterygium.

Molecular Vision
Chen, Pei-Liang PL; Yeh, Kun-Tu KT; Tsai, Yi-Yu YY; Koeh, Hank H; Liu, Yu-Ling YL; Lee, Huei H; Cheng, Ya-Wen YW
Publication Date: 2010-06-04

Variant appearance in text: p53: ASP148GLU
PubMed Link: 20577654
Variant Present in the following documents:
  • mv-v16-991.pdf
View BVdb publication page



Genetics of human neural tube defects.

Human Molecular Genetics
Greene, Nicholas D E ND; Stanier, Philip P; Copp, Andrew J AJ
Publication Date: 2009-10-15

Variant appearance in text: TP53: Asp148Glu
PubMed Link: 19808787
Variant Present in the following documents:
  • Main text
View BVdb publication page



Single nucleotide polymorphisms in DNA repair genes and prostate cancer risk.

Methods In Molecular Biology (Clifton, N.J.)
Park, Jong Y JY; Huang, Yifan Y; Sellers, Thomas A TA
Publication Date: 2009

Variant appearance in text: p53: D148E
PubMed Link: 19109789
Variant Present in the following documents:
  • Main text
View BVdb publication page



Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.

Mutation Research
Zhu, Yong Y; Hoffman, Aaron A; Wu, Xifeng X; Zhang, Heping H; Zhang, Yawei Y; Leaderer, Derek D; Zheng, Tongzhang T
Publication Date: 2008-03-01

Variant appearance in text: p53: Asp148Glu
PubMed Link: 18191955
Variant Present in the following documents:
  • Main text
View BVdb publication page



GSTM1 and APE1 genotypes affect arsenic-induced oxidative stress: a repeated measures study.

Environmental Health : A Global Access Science Source
Breton, Carrie V CV; Kile, Molly L ML; Catalano, Paul J PJ; Hoffman, Elaine E; Quamruzzaman, Quazi Q; Rahman, Mahmuder M; Mahiuddin, Golam G; Christiani, David C DC
Publication Date: 2007-12-04

Variant appearance in text: p53: Asp148Glu
PubMed Link: 18053222
Variant Present in the following documents:
  • 1476-069X-6-39.pdf
View BVdb publication page



Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.

Blood
Hill, Deirdre A DA; Wang, Sophia S SS; Cerhan, James R JR; Davis, Scott S; Cozen, Wendy W; Severson, Richard K RK; Hartge, Patricia P; Wacholder, Sholom S; Yeager, Meredith M; Chanock, Stephen J SJ; Rothman, Nathaniel N
Publication Date: 2006-11-01

Variant appearance in text: TP53: D148E
PubMed Link: 16857995
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional characterization of Ape1 variants identified in the human population.

Nucleic Acids Research
Hadi, M Z MZ; Coleman, M A MA; Fidelis, K K; Mohrenweiser, H W HW; Wilson, D M DM
Publication Date: 2000-10-15

Variant appearance in text: p53: D148E
PubMed Link: 11024165
Variant Present in the following documents:
  • Main text
View BVdb publication page