APEX1 c.153G>C ;(p.Q51H)

Variant ID: 14-20924167-G-C

NM_001641.3(APEX1):c.153G>C;(p.Q51H)

This variant was identified in 43 publications

View GRCh38 version.




Publications:


APE1/Ref-1 Role in Inflammation and Immune Response.

Frontiers In Immunology
Oliveira, Thais Teixeira TT; Coutinho, Leonam Gomes LG; de Oliveira, Laysa Ohana Alves LOA; Timoteo, Ana Rafaela de Souza ARS; Farias, Guilherme Cavalcanti GC; Agnez-Lima, Lucymara Fassarella LF
Publication Date: 2022

Variant appearance in text: rs1048945
PubMed Link: 35296074
Variant Present in the following documents:
  • Main text
  • fimmu-13-793096.pdf
View BVdb publication page



SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: APEX1: Q51H
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Associations Between Polymorphisms in Genes Related to Oxidative Stress and DNA Repair, Interactions With Serum Antioxidants, and Prostate Cancer Risk: Results From the Prostate Cancer Prevention Trial.

Frontiers In Oncology
Gong, Zhihong Z; Platek, Mary E ME; Till, Cathee C; Goodman, Phyllis J PJ; Tangen, Catherine M CM; Platz, Elizabeth A EA; Neuhouser, Marian L ML; Thompson, Ian M IM; Santella, Regina M RM; Ambrosone, Christine B CB
Publication Date: 2021

Variant appearance in text: rs1048945
PubMed Link: 35096612
Variant Present in the following documents:
  • Main text
  • fonc-11-808715.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: rs1048945
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: APEX1: 153G>C; Q51H; rs1048945
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 3
  • pone.0249324.s003.xlsx, sheet 1
  • pone.0249324.s003.xlsx, sheet 2
View BVdb publication page



Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell
Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,
Publication Date: 2020-11-25

Variant appearance in text: APEX1: Q51H
PubMed Link: 33212010
Variant Present in the following documents:
  • NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5
View BVdb publication page



Comprehensive Custom NGS Panel Validation for the Improvement of the Stratification of B-Acute Lymphoblastic Leukemia Patients.

Journal Of Personalized Medicine
Montaño, Adrián A; Hernández-Sánchez, Jesús J; Forero-Castro, Maribel M; Matorra-Miguel, María M; Lumbreras, Eva E; Miguel, Cristina C; Santos, Sandra S; Ramírez-Maldonado, Valentina V; Fuster, José Luís JL; de Las Heras, Natalia N; García-de Coca, Alfonso A; Sierra, Magdalena M; Dávila, Julio J; de la Fuente, Ignacio I; Olivier, Carmen C; Olazabal, Juan J; Martínez, Joaquín J; Vega-García, Nerea N; González, Teresa T; Hernández-Rivas, Jesús María JM; Benito, Rocío R
Publication Date: 2020-09-21

Variant appearance in text: rs1048945
PubMed Link: 32967112
Variant Present in the following documents:
  • jpm-10-00137-s001.pdf
View BVdb publication page



A Dual Face of APE1 in the Maintenance of Genetic Stability in Monocytes: An Overview of the Current Status and Future Perspectives.

Genes
Betlej, Gabriela G; Bator, Ewelina E; Pyrkosz, Antoni A; Kwiatkowska, Aleksandra A
Publication Date: 2020-06-11

Variant appearance in text: rs1048945
PubMed Link: 32545201
Variant Present in the following documents:
  • Main text
  • genes-11-00643.pdf
View BVdb publication page



Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Oncogene
Yadav, Santosh S; Anbalagan, Muralidharan M; Baddoo, Melody M; Chellamuthu, Vinodh K VK; Mukhopadhyay, Sudurika S; Woods, Carol C; Jiang, Wei W; Moroz, Krzysztof K; Flemington, Erik K EK; Makridakis, Nick N
Publication Date: 2020-05

Variant appearance in text: APEX1: Q51H; rs1048945
PubMed Link: 32300177
Variant Present in the following documents:
  • 41388_2020_1280_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications
Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B
Publication Date: 2020-04-09

Variant appearance in text: APEX1: Q51H
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
  • 41467_2020_15456_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02

Variant appearance in text: APEX1: 153G>C; Gln51His
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 10
  • Supplementary_Data2.xlsx, sheet 12
  • Supplementary_Data2.xlsx, sheet 11
  • Supplementary_Data2.xlsx, sheet 9
View BVdb publication page



Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer.

Gut
Montazeri, Zahra Z; Li, Xue X; Nyiraneza, Christine C; Ma, Xiangyu X; Timofeeva, Maria M; Svinti, Victoria V; Meng, Xiangrui X; He, Yazhou Y; Bo, Yacong Y; Morgan, Samuel S; Castellví-Bel, Sergi S; Ruiz-Ponte, Clara C; Fernández-Rozadilla, Ceres C; Carracedo, Ángel Á; Castells, Antoni A; Bishop, Timothy T; Buchanan, Daniel D; Jenkins, Mark A MA; Keku, Temitope O TO; Lindblom, Annika A; van Duijnhoven, Fränzel J B FJB; Wu, Anna A; Farrington, Susan M SM; Dunlop, Malcolm G MG; Campbell, Harry H; Theodoratou, Evropi E; Zheng, Wei W; Little, Julian J
Publication Date: 2020-08

Variant appearance in text: rs1048945
PubMed Link: 31818908
Variant Present in the following documents:
  • gutjnl-2019-319313supp002.pdf
View BVdb publication page



Childhood cerebellar tumours mirror conserved fetal transcriptional programs.

Nature
Vladoiu, Maria C MC; El-Hamamy, Ibrahim I; Donovan, Laura K LK; Farooq, Hamza H; Holgado, Borja L BL; Sundaravadanam, Yogi Y; Ramaswamy, Vijay V; Hendrikse, Liam D LD; Kumar, Sachin S; Mack, Stephen C SC; Lee, John J Y JJY; Fong, Vernon V; Juraschka, Kyle K; Przelicki, David D; Michealraj, Antony A; Skowron, Patryk P; Luu, Betty B; Suzuki, Hiromichi H; Morrissy, A Sorana AS; Cavalli, Florence M G FMG; Garzia, Livia L; Daniels, Craig C; Wu, Xiaochong X; Qazi, Maleeha A MA; Singh, Sheila K SK; Chan, Jennifer A JA; Marra, Marco A MA; Malkin, David D; Dirks, Peter P; Heisler, Lawrence L; Pugh, Trevor T; Ng, Karen K; Notta, Faiyaz F; Thompson, Eric M EM; Kleinman, Claudia L CL; Joyner, Alexandra L AL; Jabado, Nada N; Stein, Lincoln L; Taylor, Michael D MD
Publication Date: 2019-08

Variant appearance in text: rs1048945
PubMed Link: 31043743
Variant Present in the following documents:
  • NIHMS1525286-supplement-Sup_Table_7.xlsx, sheet 8
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: APEX1: Q51H; rs1048945
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 3
View BVdb publication page



Precision Nutrition for Targeting Lipid Metabolism in Colorectal Cancer.

Nutrients
Aguirre-Portolés, Cristina C; Fernández, Lara P LP; Ramírez de Molina, Ana A
Publication Date: 2017-09-28

Variant appearance in text: rs1048945
PubMed Link: 28956850
Variant Present in the following documents:
  • Main text
  • nutrients-09-01076.pdf
View BVdb publication page



Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies.

Scientific Reports
Wang, Junjun J; Liu, Qingyun Q; Yuan, Shuai S; Xie, Weijia W; Liu, Yuan Y; Xiang, Ying Y; Wu, Na N; Wu, Long L; Ma, Xiangyu X; Cai, Tongjian T; Zhang, Yao Y; Sun, Zhifu Z; Li, Yafei Y
Publication Date: 2017-08-21

Variant appearance in text: APEX1: 153G>C; Gln51His; rs1048945
PubMed Link: 28827732
Variant Present in the following documents:
  • 41598_2017_7737_MOESM1_ESM.pdf
View BVdb publication page



Exploiting the Ref-1-APE1 node in cancer signaling and other diseases: from bench to clinic.

Npj Precision Oncology
Shah, Fenil F; Logsdon, Derek D; Messmann, Richard A RA; Fehrenbacher, Jill C JC; Fishel, Melissa L ML; Kelley, Mark R MR
Publication Date: 2017

Variant appearance in text: rs1048945
PubMed Link: 28825044
Variant Present in the following documents:
  • Main text
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: APEX1: Q51H; rs1048945
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: APEX1: Q51H; rs1048945
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 9
View BVdb publication page



Modulation of Colorectal Cancer Risk by Polymorphisms in 51Gln/His, 64Ile/Val, and 148Asp/Glu of APEX Gene; 23Gly/Ala of XPA Gene; and 689Ser/Arg of ERCC4 Gene.

Gastroenterology Research And Practice
Dziki, L L; Dziki, A A; Mik, M M; Majsterek, I I; Kabzinski, J J
Publication Date: 2017

Variant appearance in text: rs1048945
PubMed Link: 28386271
Variant Present in the following documents:
  • Main text
  • GRP2017-3840243.pdf
View BVdb publication page



Tumor-associated APE1 variant exhibits reduced complementation efficiency but does not promote cancer cell phenotypes.

Environmental And Molecular Mutagenesis
Illuzzi, Jennifer L JL; McNeill, Daniel R DR; Bastian, Paul P; Brenerman, Boris B; Wersto, Robert R; Russell, Helen R HR; Bunz, Fred F; McKinnon, Peter J PJ; Becker, Kevin G KG; Wilson, David M DM
Publication Date: 2017-03

Variant appearance in text: REF-1: Q51H
PubMed Link: 28181292
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature
Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,
Publication Date: 2016-06-02

Variant appearance in text: APEX1: Q51H; rs1048945
PubMed Link: 27251275
Variant Present in the following documents:
  • NIHMS778057-supplement-supp_table5.xlsx, sheet 2
View BVdb publication page



Intratumoral heterogeneity identified at the epigenetic, genetic and transcriptional level in glioblastoma.

Scientific Reports
Parker, Nicole R NR; Hudson, Amanda L AL; Khong, Peter P; Parkinson, Jonathon F JF; Dwight, Trisha T; Ikin, Rowan J RJ; Zhu, Ying Y; Cheng, Zhangkai Jason ZJ; Vafaee, Fatemeh F; Chen, Jason J; Wheeler, Helen R HR; Howell, Viive M VM
Publication Date: 2016-03-04

Variant appearance in text: APEX1: Q51H; rs1048945
PubMed Link: 26940435
Variant Present in the following documents:
  • Main text
  • srep22477.pdf
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: rs1048945
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: APEX1: Q51H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015

Variant appearance in text: APEX1: Q51H; rs1048945
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 10
  • pone.0123569.s008.xls, sheet 1
  • pone.0123569.s008.xls, sheet 5
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: APEX1: Q51H; rs1048945
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: APEX1: Q51H; rs1048945
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 25
View BVdb publication page



Contribution of environment and genetics to pancreatic cancer susceptibility.

Plos One
Hocevar, Barbara A BA; Kamendulis, Lisa M LM; Pu, Xinzhu X; Perkins, Susan M SM; Wang, Zheng-Yu ZY; Johnston, Erica L EL; DeWitt, John M JM; Li, Lang L; Loehrer, Patrick J PJ; Klaunig, James E JE; Chiorean, E Gabriela EG
Publication Date: 2014

Variant appearance in text: APEX1: Q51H
PubMed Link: 24651674
Variant Present in the following documents:
  • Main text
  • pone.0090052.pdf
View BVdb publication page



Genetic variation in the base excision repair pathway, environmental risk factors, and colorectal adenoma risk.

Plos One
Corral, Roman R; Lewinger, Juan Pablo JP; Joshi, Amit D AD; Levine, A Joan AJ; Vandenberg, David J DJ; Haile, Robert W RW; Stern, Mariana C MC
Publication Date: 2013

Variant appearance in text: rs1048945
PubMed Link: 23951112
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human apurinic/apyrimidinic endonuclease 1.

Antioxidants & Redox Signaling
Li, Mengxia M; Wilson, David M DM
Publication Date: 2014-02-01

Variant appearance in text: REF-1: Q51H; rs1048945
PubMed Link: 23834463
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional assessment of population and tumor-associated APE1 protein variants.

Plos One
Illuzzi, Jennifer L JL; Harris, Nicole A NA; Manvilla, Brittney A BA; Kim, Daemyung D; Li, Mengxia M; Drohat, Alexander C AC; Wilson, David M DM
Publication Date: 2013

Variant appearance in text: APEX1: Q51H; rs1048945
PubMed Link: 23776569
Variant Present in the following documents:
  • Main text
  • pone.0065922.pdf
View BVdb publication page



Investigating the structural impacts of I64T and P311S mutations in APE1-DNA complex: a molecular dynamics approach.

Plos One
Doss, C George Priya CG; Nagasundaram, N N
Publication Date: 2012

Variant appearance in text: APEX1: Q51H; rs1048945
PubMed Link: 22384055
Variant Present in the following documents:
  • Main text
  • pone.0031677.pdf
View BVdb publication page



Base excision repair and cancer.

Cancer Letters
Wallace, Susan S SS; Murphy, Drew L DL; Sweasy, Joann B JB
Publication Date: 2012-12-31

Variant appearance in text: APEX1: Gln51His
PubMed Link: 22252118
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genetic variant in the APE1/Ref-1 gene promoter -141T/G may modulate risk of glioblastoma in a Chinese Han population.

Bmc Cancer
Zhou, Keke K; Hu, Dezhi D; Lu, Juan J; Fan, Weiwei W; Liu, Hongliang H; Chen, Hongyan H; Chen, Gong G; Wei, Qingyi Q; Du, Guhong G; Mao, Ying Y; Lu, Daru D; Zhou, Liangfu L
Publication Date: 2011-03-23

Variant appearance in text: APEX1: Gln51His; rs1048945
PubMed Link: 21429202
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms in base excision repair genes as colorectal cancer risk factors and modifiers of the effect of diets high in red meat.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Brevik, Asgeir A; Joshi, Amit D AD; Corral, Román R; Onland-Moret, N Charlotte NC; Siegmund, Kimberly D KD; Le Marchand, Loïc L; Baron, John A JA; Martinez, Maria Elena ME; Haile, Robert W RW; Ahnen, Dennis J DJ; Sandler, Robert S RS; Lance, Peter P; Stern, Mariana C MC
Publication Date: 2010-12

Variant appearance in text: APEX1: Gln51His; rs1048945
PubMed Link: 21037106
Variant Present in the following documents:
  • Main text
View BVdb publication page



Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID.

Plos One
Offer, Steven M SM; Pan-Hammarström, Qiang Q; Hammarström, Lennart L; Harris, Reuben S RS
Publication Date: 2010-08-18

Variant appearance in text: APEX1: Q51H; rs1048945
PubMed Link: 20805886
Variant Present in the following documents:
  • Main text
  • pone.0012260.s004.pdf
  • pone.0012260.pdf
  • pone.0012260.s005.pdf
View BVdb publication page



Posttranslational modification of mammalian AP endonuclease (APE1).

Cellular And Molecular Life Sciences : Cmls
Busso, Carlos S CS; Lake, Michael W MW; Izumi, Tadahide T
Publication Date: 2010-11

Variant appearance in text: APEX1: Q51H
PubMed Link: 20711647
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: rs1048945
PubMed Link: 19109789
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics
Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W
Publication Date: 2008-06-11

Variant appearance in text: rs1048945
PubMed Link: 18547414
Variant Present in the following documents:
  • 1755-8794-1-24-S1.xls, sheet 1
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: rs1048945
PubMed Link: 18191955
Variant Present in the following documents:
  • Main text
View BVdb publication page



Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.

Bmc Cancer
Sigurdson, Alice J AJ; Hauptmann, Michael M; Chatterjee, Nilanjan N; Alexander, Bruce H BH; Doody, Michele Morin MM; Rutter, Joni L JL; Struewing, Jeffery P JP
Publication Date: 2004-03-12

Variant appearance in text: APEX: Q51H; rs1048945
PubMed Link: 15113441
Variant Present in the following documents:
  • Main text
  • 1471-2407-4-9.pdf
View BVdb publication page