TP53BP1 c.1074C>A ;(p.D358E)

Variant ID: 15-43767774-G-T

NM_001141980.1(TP53BP1):c.1074C>A;(p.D358E)

This variant was identified in 55 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: TP53BP1: D358E
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 9
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: TP53BP1: D358E; rs560191
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: TP53BP1: D358E
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: TP53BP1: D358E; rs560191
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Iscience
Bateman, Nicholas W NW; Tarney, Christopher M CM; Abulez, Tamara S TS; Hood, Brian L BL; Conrads, Kelly A KA; Zhou, Ming M; Soltis, Anthony R AR; Teng, Pang-Ning PN; Jackson, Amanda A; Tian, Chunqiao C; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Kessler, Michael D MD; Goecker, Zachary Z; Loffredo, Jeremy J; Shriver, Craig D CD; Hu, Hai H; Cote, Michele M; Parker, Glendon J GJ; Segars, James J; Al-Hendy, Ayman A; Risinger, John I JI; Phippen, Neil T NT; Casablanca, Yovanni Y; Darcy, Kathleen M KM; Maxwell, G Larry GL; Conrads, Thomas P TP; O'Connor, Timothy D TD
Publication Date: 2022-01-21

Variant appearance in text: rs560191
PubMed Link: 35036865
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: TP53BP1: D358E
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
  • mmc2.xlsx, sheet 4
  • mmc2.xlsx, sheet 6
  • mmc2.xlsx, sheet 9
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: TP53BP1: D358E
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 6
  • mmc2.xlsx, sheet 3
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 9
  • mmc2.xlsx, sheet 4
View BVdb publication page



The Association of Aging-Related Polymorphisms with Susceptibility to Lung Cancer: A Case-Control Study in a Japanese Population.

Asian Pacific Journal Of Cancer Prevention : Apjcp
Furuie, Hironobu H; Arimura-Omori, Masako M; Hamada, Naoki N; Yanagihara, Toyoshi T; Kiyohara, Chikako C
Publication Date: 2021-04-01

Variant appearance in text: rs560191
PubMed Link: 33906323
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: rs560191
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: TP53BP1: D358E; rs560191
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, 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: TP53BP1: D358E
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Transcriptomic and Genomic Testing to Guide Individualized Treatment in Chemoresistant Gastric Cancer Case.

Biomedicines
Moisseev, Alexey A; Albert, Eugene E; Lubarsky, Dan D; Schroeder, David D; Clark, Jeffrey J
Publication Date: 2020-03-23

Variant appearance in text: rs560191
PubMed Link: 32210001
Variant Present in the following documents:
  • biomedicines-08-00067.pdf
View BVdb publication page



YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications
Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T
Publication Date: 2020-01-03

Variant appearance in text: TP53BP1: D358E
PubMed Link: 31900393
Variant Present in the following documents:
  • 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: TP53BP1: D358E; rs560191
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Breast cancer quantitative proteome and proteogenomic landscape.

Nature Communications
Johansson, Henrik J HJ; Socciarelli, Fabio F; Vacanti, Nathaniel M NM; Haugen, Mads H MH; Zhu, Yafeng Y; Siavelis, Ioannis I; Fernandez-Woodbridge, Alejandro A; Aure, Miriam R MR; Sennblad, Bengt B; Vesterlund, Mattias M; Branca, Rui M RM; Orre, Lukas M LM; Huss, Mikael M; Fredlund, Erik E; Beraki, Elsa E; Garred, Øystein Ø; Boekel, Jorrit J; Sauer, Torill T; Zhao, Wei W; Nord, Silje S; Höglander, Elen K EK; Jans, Daniel C DC; Brismar, Hjalmar H; Haukaas, Tonje H TH; Bathen, Tone F TF; Schlichting, Ellen E; Naume, Bjørn B; , ; Luders, Torben T; Borgen, Elin E; Kristensen, Vessela N VN; Russnes, Hege G HG; Lingjærde, Ole Christian OC; Mills, Gordon B GB; Sahlberg, Kristine K KK; Børresen-Dale, Anne-Lise AL; Lehtiö, Janne J
Publication Date: 2019-04-08

Variant appearance in text: rs560191
PubMed Link: 30962452
Variant Present in the following documents:
  • 41467_2019_9018_MOESM8_ESM.xlsx, sheet 2
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: TP53BP1: D358E; rs560191
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs560191
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: TP53BP1: D358E; rs560191
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs560191
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.

Annals Of The Rheumatic Diseases
Carapito, Raphael R; Carapito, Christine C; Morlon, Aurore A; Paul, Nicodème N; Vaca Jacome, Alvaro Sebastian AS; Alsaleh, Ghada G; Rolli, Véronique V; Tahar, Ouria O; Aouadi, Ismail I; Rompais, Magali M; Delalande, François F; Pichot, Angélique A; Georgel, Philippe P; Messer, Laurent L; Sibilia, Jean J; Cianferani, Sarah S; Van Dorsselaer, Alain A; Bahram, Seiamak S
Publication Date: 2018-11

Variant appearance in text: TP53BP1: D358E; rs560191
PubMed Link: 30030262
Variant Present in the following documents:
  • annrheumdis-2018-213524supp002.xlsx, sheet 1
View BVdb publication page



Interactions Between Genetic Variants and Environmental Factors Affect Risk of Esophageal Adenocarcinoma and Barrett's Esophagus.

Clinical Gastroenterology And Hepatology : The Official Clinical Practice Journal Of The American Gastroenterological Association
Dong, Jing J; Levine, David M DM; Buas, Matthew F MF; Zhang, Rui R; Onstad, Lynn L; Fitzgerald, Rebecca C RC; , ; Corley, Douglas A DA; Shaheen, Nicholas J NJ; Lagergren, Jesper J; Hardie, Laura J LJ; Reid, Brian J BJ; Iyer, Prasad G PG; Risch, Harvey A HA; Caldas, Carlos C; Caldas, Isabel I; Pharoah, Paul D PD; Liu, Geoffrey G; Gammon, Marilie D MD; Chow, Wong-Ho WH; Bernstein, Leslie L; Bird, Nigel C NC; Ye, Weimin W; Wu, Anna H AH; Anderson, Lesley A LA; MacGregor, Stuart S; Whiteman, David C DC; Vaughan, Thomas L TL; Thrift, Aaron P AP
Publication Date: 2018-10

Variant appearance in text: rs560191
PubMed Link: 29551738
Variant Present in the following documents:
  • Main text
View BVdb publication page



Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow.

Nature Communications
Zhu, Yafeng Y; Orre, Lukas M LM; Johansson, Henrik J HJ; Huss, Mikael M; Boekel, Jorrit J; Vesterlund, Mattias M; Fernandez-Woodbridge, Alejandro A; Branca, Rui M M RMM; Lehtiö, Janne J
Publication Date: 2018-03-02

Variant appearance in text: rs560191
PubMed Link: 29500430
Variant Present in the following documents:
  • 41467_2018_3311_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: TP53BP1: D358E; rs560191
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
  • oncotarget-08-95841-s002.xlsx, sheet 4
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: rs560191
PubMed Link: 28827732
Variant Present in the following documents:
  • 41598_2017_7737_MOESM1_ESM.pdf
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: TP53BP1: D358E; rs560191
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM6_ESM.xlsx, sheet 1
  • 13073_2017_454_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs560191
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: TP53BP1: D358E; rs560191
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
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: TP53BP1: D358E; rs560191
PubMed Link: 27251275
Variant Present in the following documents:
  • NIHMS778057-supplement-supp_table5.xlsx, sheet 2
View BVdb publication page



PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: TP53BP1: D358E
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.xlsx, sheet 1
View BVdb publication page



B-cell lymphoma 2 rs17757541 C>G polymorphism was associated with an increased risk of coronary artery disease in a Chinese population.

International Journal Of Clinical And Experimental Pathology
Xuan, Yang Y; Wang, Li-Na LN; Wei, Ping-Min PM; Zhi, Hong H; Lu, Zu-Hong ZH
Publication Date: 2015

Variant appearance in text: rs560191
PubMed Link: 26823859
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms in apoptosis-related genes and the prognosis of hepatocellular carcinoma.

American Journal Of Cancer Research
Yu, Guo-Peng GP; Xiao, Qian-Yi QY; Shi, Zhu-Qing ZQ; Tang, Li-Sha LS; Ma, Xiao-Pin XP; Zhang, Lu-Yao LY; Chen, Hai-Tao HT; Wang, Wen-Jia WJ; Zhang, Peng-Yin PY; Ding, Dong-Lin DL; Huang, Hui-Xing HX; Saiyin, Hexige H; Chen, Tao-Yang TY; Lu, Pei-Xin PX; Wang, Neng-Jin NJ; Yu, Hong-Jie HJ; Sun, Jie-Lin JL; Zheng, S Lilly SL; Xu, Jian-Feng JF; Yu, Long L; Jiang, De-Ke DK
Publication Date: 2015

Variant appearance in text: rs560191
PubMed Link: 26693075
Variant Present in the following documents:
  • Main text
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: rs560191
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: TP53BP1: D358E; rs560191
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



Nucleotide Excision Repair Gene ERCC2 and ERCC5 Variants Increase Risk of Uterine Cervical Cancer.

Cancer Research And Treatment
Joo, Jungnam J; Yoon, Kyong-Ah KA; Hayashi, Tomonori T; Kong, Sun-Young SY; Shin, Hye-Jin HJ; Park, Boram B; Kim, Young Min YM; Hwang, Sang-Hyun SH; Kim, Jeongseon J; Shin, Aesun A; Kim, Joo-Young JY
Publication Date: 2016-04

Variant appearance in text: rs560191
PubMed Link: 26130668
Variant Present in the following documents:
  • Main text
  • crt-2015-098.pdf
View BVdb publication page



A mass-tolerant database search identifies a large proportion of unassigned spectra in shotgun proteomics as modified peptides.

Nature Biotechnology
Chick, Joel M JM; Kolippakkam, Deepak D; Nusinow, David P DP; Zhai, Bo B; Rad, Ramin R; Huttlin, Edward L EL; Gygi, Steven P SP
Publication Date: 2015-07

Variant appearance in text: rs560191
PubMed Link: 26076430
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variant TP53BP1 rs560191 G>C is associated with risk of gastric cardia adenocarcinoma in a Chinese Han population.

Chinese Journal Of Cancer Research = Chung-Kuo Yen Cheng Yen Chiu
Zhang, Sheng S; Tang, Weifeng W; Ding, Guowen G; Liu, Chao C; Liu, Ruiping R; Chen, Suocheng S; Gu, Haiyong H; Yu, Chunzhao C
Publication Date: 2015-04

Variant appearance in text: rs560191
PubMed Link: 25937777
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: rs560191
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, sheet 1
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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: TP53BP1: D358E; rs560191
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
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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: TP53BP1: D358E; rs560191
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File014.xlsx, sheet 3
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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One
Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014

Variant appearance in text: TP53BP1: Asp358Glu
PubMed Link: 25333361
Variant Present in the following documents:
  • pone.0109576.s001.xls, sheet 3
  • pone.0109576.s003.xls, sheet 3
  • pone.0109576.s002.xls, sheet 3
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p21 rs3176352 G>C and p73 rs1801173 C>T polymorphisms are associated with an increased risk of esophageal cancer in a Chinese population.

Plos One
Zheng, Liang L; Tang, Weifeng W; Shi, Yijun Y; Chen, Suocheng S; Wang, Xu X; Wang, Liming L; Shao, Aizhong A; Ding, Guowen G; Liu, Chao C; Liu, Ruiping R; Yin, Jun J; Gu, Haiyong H
Publication Date: 2014

Variant appearance in text: rs560191
PubMed Link: 24820515
Variant Present in the following documents:
  • Main text
  • pone.0096958.pdf
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Lack of association of the TP53BP1 Glu353Asp polymorphism with risk of cancer: a systematic review and meta-analysis.

Plos One
Liu, Lei L; Jiao, Jinghua J; Wang, Yu Y; Zhang, Dong D; Wu, Jingyang J; Huang, Desheng D
Publication Date: 2014

Variant appearance in text: rs560191
PubMed Link: 24603722
Variant Present in the following documents:
  • Main text
  • pone.0090931.pdf
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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: rs560191
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
  • cas0105-0202-SD3.xlsx, sheet 1
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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs560191
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
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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: rs560191
PubMed Link: 23349013
Variant Present in the following documents:
  • Main text
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Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations.

Human Genomics
Zhang, Guojie G; Pei, Zhang Z; Ball, Edward V EV; Mort, Matthew M; Kehrer-Sawatzki, Hildegard H; Cooper, David N DN
Publication Date: 2011-07

Variant appearance in text: rs560191
PubMed Link: 21807602
Variant Present in the following documents:
  • Main text
  • 1479-7364-5-5-453.pdf
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Genome-wide significant association between a sequence variant at 15q15.2 and lung cancer risk.

Cancer Research
Rafnar, Thorunn T; Sulem, Patrick P; Besenbacher, Soren S; Gudbjartsson, Daniel F DF; Zanon, Carlo C; Gudmundsson, Julius J; Stacey, Simon N SN; Kostic, Jelena P JP; Thorgeirsson, Thorgeir E TE; Thorleifsson, Gudmar G; Bjarnason, Hjordis H; Skuladottir, Halla H; Gudbjartsson, Tomas T; Isaksson, Helgi J HJ; Isla, Dolores D; Murillo, Laura L; García-Prats, Maria D MD; Panadero, Angeles A; Aben, Katja K H KK; Vermeulen, Sita H SH; van der Heijden, Henricus F M HF; Feser, William J WJ; Miller, York E YE; Bunn, Paul A PA; Kong, Augustine A; Wolf, Holly J HJ; Franklin, Wilbur A WA; Mayordomo, Jose I JI; Kiemeney, Lambertus A LA; Jonsson, Steinn S; Thorsteinsdottir, Unnur U; Stefansson, Kari K
Publication Date: 2011-02-15

Variant appearance in text: rs560191
PubMed Link: 21303977
Variant Present in the following documents:
  • Main text
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Interactions between genetic polymorphisms in the apoptotic pathway and environmental factors on esophageal adenocarcinoma risk.

Carcinogenesis
Wu, I-Chen IC; Zhao, Yang Y; Zhai, Rihong R; Liu, Chen-yu CY; Chen, Feng F; Ter-Minassian, Monica M; Asomaning, Kofi K; Su, Li L; Heist, Rebecca S RS; Kulke, Matthew H MH; Liu, Geoffrey G; Christiani, David C DC
Publication Date: 2011-04

Variant appearance in text: rs560191
PubMed Link: 21212151
Variant Present in the following documents:
  • Main text
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Genetic variants in the 53BP1 gene and skin cancer risk.

The Journal Of Investigative Dermatology
He, Chunyan C; Nan, Hongmei H; Qureshi, Abrar A AA; Han, Jiali J
Publication Date: 2010-12

Variant appearance in text: rs560191
PubMed Link: 20686496
Variant Present in the following documents:
  • Main text
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Evaluation of single nucleotide polymorphisms (SNPs) in the p53 binding protein 1 (TP53BP1) gene in breast cancer patients treated with breast-conserving surgery and whole-breast irradiation (BCS + RT).

International Journal Of Radiation Oncology, Biology, Physics
Haffty, Bruce G BG; Goyal, Sharad S; Kulkarni, Diptee D; Green, Camille C; Vazquez, Alexi A; Schiff, Devora D; Moran, Meena S MS; Yang, Qifeng Q; Ganesan, Shridar S; Hirsfield, Kim M KM
Publication Date: 2011-06-01

Variant appearance in text: rs560191
PubMed Link: 20646866
Variant Present in the following documents:
  • Main text
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Interactions among genetic variants in apoptosis pathway genes, reflux symptoms, body mass index, and smoking indicate two distinct etiologic patterns of esophageal adenocarcinoma.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Zhai, Rihong R; Chen, Feng F; Liu, Geoffrey G; Su, Li L; Kulke, Matthew H MH; Asomaning, Kofi K; Lin, Xihong X; Heist, Rebecca S RS; Nishioka, Norman S NS; Sheu, Chau-Chyun CC; Wain, John C JC; Christiani, David C DC
Publication Date: 2010-05-10

Variant appearance in text: rs560191
PubMed Link: 20385987
Variant Present in the following documents:
  • Main text
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International Lung Cancer Consortium: coordinated association study of 10 potential lung cancer susceptibility variants.

Carcinogenesis
Truong, Therese T; Sauter, Wiebke W; McKay, James D JD; Hosgood, H Dean HD; Gallagher, Carla C; Amos, Christopher I CI; Spitz, Margaret M; Muscat, Joshua J; Lazarus, Philip P; Illig, Thomas T; Wichmann, H Erich HE; Bickeböller, Heike H; Risch, Angela A; Dienemann, Hendrik H; Zhang, Zuo-Feng ZF; Naeim, Behnaz Pezeshki BP; Yang, Ping P; Zienolddiny, Shanbeh S; Haugen, Aage A; Le Marchand, Loïc L; Hong, Yun-Chul YC; Kim, Jin Hee JH; Duell, Eric J EJ; Andrew, Angeline S AS; Kiyohara, Chikako C; Shen, Hongbing H; Matsuo, Keitaro K; Suzuki, Takeshi T; Seow, Adeline A; Ng, Daniel P K DP; Lan, Qing Q; Zaridze, David D; Szeszenia-Dabrowska, Neonilia N; Lissowska, Jolanta J; Rudnai, Peter P; Fabianova, Eleonora E; Constantinescu, Vali V; Bencko, Vladimir V; Foretova, Lenka L; Janout, Vladimir V; Caporaso, Neil E NE; Albanes, Demetrius D; Thun, Michael M; Landi, Maria Teresa MT; Trubicka, Joanna J; Lener, Marcin M; Lubinski, Jan J; , ; Wang, Ying Y; Chabrier, Amélie A; Boffetta, Paolo P; Brennan, Paul P; Hung, Rayjean J RJ
Publication Date: 2010-04

Variant appearance in text: rs560191
PubMed Link: 20106900
Variant Present in the following documents:
  • Main text
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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: rs560191
PubMed Link: 18547414
Variant Present in the following documents:
  • 1755-8794-1-24-S1.xls, sheet 1
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Variants in the GH-IGF axis confer susceptibility to lung cancer.

Genome Research
Rudd, Matthew F MF; Webb, Emily L EL; Matakidou, Athena A; Sellick, Gabrielle S GS; Williams, Richard D RD; Bridle, Helen H; Eisen, Tim T; Houlston, Richard S RS; ,
Publication Date: 2006-06

Variant appearance in text: rs560191
PubMed Link: 16741161
Variant Present in the following documents:
  • Main text
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TP53-binding protein variants and breast cancer risk: a case-control study.

Breast Cancer Research : Bcr
Frank, Bernd B; Hemminki, Kari K; Bermejo, Justo Lorenzo JL; Klaes, Rüdiger R; Bugert, Peter P; Wappenschmidt, Barbara B; Schmutzler, Rita K RK; Burwinkel, Barbara B
Publication Date: 2005

Variant appearance in text: rs560191
PubMed Link: 15987456
Variant Present in the following documents:
  • Main text
  • bcr1038.pdf
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