EXO1 c.1316C>T ;(p.T439M)

Variant ID: 1-242035382-C-T

NM_130398.3(EXO1):c.1316C>T;(p.T439M)

This variant was identified in 35 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: EXO1: T439M; rs4149963
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.

Neuro-Oncology
Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,
Publication Date: 2022-09-17

Variant appearance in text: EXO1: 1316C>T; Thr439Met; rs4149963
PubMed Link: 36124685
Variant Present in the following documents:
  • noac220_suppl_supplementary_table_s3.xlsx, sheet 1
View BVdb publication page



Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: EXO1: T439M; rs4149963
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Association study of candidate DNA-repair gene variants and acute graft versus host disease in pediatric patients receiving allogeneic hematopoietic stem-cell transplantation.

The Pharmacogenomics Journal
Uppugunduri, C R S CRS; Huezo-Diaz Curtis, P P; Nava, T T; Rezgui, M A MA; Mlakar, V V; Mlakar, S Jurkovic SJ; Waespe, N N; Théoret, Y Y; Gumy-Pause, F F; Bernard, F F; Chalandon, Y Y; Boelens, J J JJ; Bredius, R G M RGM; Dalle, J H JH; Nath, C C; Corbacioglu, S S; Peters, C C; Bader, P P; Shaw, P P; Bittencourt, H H; Krajinovic, M M; Ansari, M M
Publication Date: 2022-02

Variant appearance in text: EXO1: T439M; rs4149963
PubMed Link: 34711928
Variant Present in the following documents:
  • Main text
  • 41397_2021_Article_251.pdf
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: EXO1: T439M; rs4149963
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

Variant appearance in text: EXO1: T439M; rs4149963
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



Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Plos One
Singh, Richa R; Das, Shreya S; Datta, Sila S; Mazumdar, Anjana A; Biswas, Nidhan K NK; Maitra, Arindam A; Majumder, Partha P PP; Ghose, Sandip S; Roy, Bidyut B
Publication Date: 2020

Variant appearance in text: EXO1: T439M; rs4149963
PubMed Link: 32492030
Variant Present in the following documents:
  • pone.0233058.s001.xlsx, sheet 11
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: EXO1: T439M; rs4149963
PubMed Link: 32300177
Variant Present in the following documents:
  • 41388_2020_1280_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The essentiality landscape of cell cycle related genes in human pluripotent and cancer cells.

Cell Division
Viner-Breuer, Ruth R; Yilmaz, Atilgan A; Benvenisty, Nissim N; Goldberg, Michal M
Publication Date: 2019

Variant appearance in text: EXO1: 1316C>T; T439M
PubMed Link: 31889988
Variant Present in the following documents:
  • 13008_2019_58_MOESM6_ESM.xlsx, sheet 1
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: EXO1: T439M; rs4149963
PubMed Link: 31818908
Variant Present in the following documents:
  • gutjnl-2019-319313supp002.pdf
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: EXO1: T439M; rs4149963
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
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: EXO1: T439M; rs4149963
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
View BVdb publication page



Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: EXO1: T439M
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Human Exonuclease 1 (EXO1) Regulatory Functions in DNA Replication with Putative Roles in Cancer.

International Journal Of Molecular Sciences
Keijzers, Guido G; Bakula, Daniela D; Petr, Michael Angelo MA; Madsen, Nils Gedsig Kirkelund NGK; Teklu, Amanuel A; Mkrtchyan, Garik G; Osborne, Brenna B; Scheibye-Knudsen, Morten M
Publication Date: 2018-12-25

Variant appearance in text: EXO1: T439M; rs4149963
PubMed Link: 30585186
Variant Present in the following documents:
  • Main text
  • ijms-20-00074.pdf
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: EXO1: T439M; rs4149963
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
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: EXO1: T439M; rs4149963
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



EXO1 overexpression is associated with poor prognosis of hepatocellular carcinoma patients.

Cell Cycle (Georgetown, Tex.)
Dai, Yaoyao Y; Tang, Zuxiong Z; Yang, Zongguo Z; Zhang, Lan L; Deng, Qing Q; Zhang, Xiaofeng X; Yu, Yongchun Y; Liu, Xing X; Zhu, Junfeng J
Publication Date: 2018

Variant appearance in text: rs4149963
PubMed Link: 30328366
Variant Present in the following documents:
  • Main text
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: EXO1: T439M; rs4149963
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: EXO1: T439M; rs4149963
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Impact of DNA repair gene polymorphisms on the risk of biochemical recurrence after radiotherapy and overall survival in prostate cancer.

Oncotarget
Zanusso, Chiara C; Bortolus, Roberto R; Dreussi, Eva E; Polesel, Jerry J; Montico, Marcella M; Cecchin, Erika E; Gagno, Sara S; Rizzolio, Flavio F; Arcicasa, Mauro M; Novara, Giacomo G; Toffoli, Giuseppe G
Publication Date: 2017-04-04

Variant appearance in text: EXO1: Thr439Met; rs4149963
PubMed Link: 28206966
Variant Present in the following documents:
  • Main text
  • oncotarget-08-22863.pdf
View BVdb publication page



Associations between single-nucleotide polymorphisms of human exonuclease 1 and the risk of hepatocellular carcinoma.

Oncotarget
Tan, Shengkui S; Qin, Ruoyun R; Zhu, Xiaonian X; Tan, Chao C; Song, Jiale J; Qin, Linyuan L; Liu, Liu L; Huang, Xiong X; Li, Anhua A; Qiu, Xiaoqiang X
Publication Date: 2016-12-27

Variant appearance in text: rs4149963
PubMed Link: 27894089
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenetics Biomarkers and Their Specific Role in Neoadjuvant Chemoradiotherapy Treatments: An Exploratory Study on Rectal Cancer Patients.

International Journal Of Molecular Sciences
Dreussi, Eva E; Cecchin, Erika E; Polesel, Jerry J; Canzonieri, Vincenzo V; Agostini, Marco M; Boso, Caterina C; Belluco, Claudio C; Buonadonna, Angela A; Lonardi, Sara S; Bergamo, Francesca F; Gagno, Sara S; De Mattia, Elena E; Pucciarelli, Salvatore S; De Paoli, Antonino A; Toffoli, Giuseppe G
Publication Date: 2016-09-05

Variant appearance in text: rs4149963
PubMed Link: 27608007
Variant Present in the following documents:
  • Main text
  • ijms-17-01482.pdf
View BVdb publication page



The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget
Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM
Publication Date: 2016-06-28

Variant appearance in text: EXO1: T439M
PubMed Link: 27175599
Variant Present in the following documents:
  • oncotarget-07-39758-s006.xlsx, sheet 1
View BVdb publication page



Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families.

Cancer Medicine
Talseth-Palmer, Bente A BA; Bauer, Denis C DC; Sjursen, Wenche W; Evans, Tiffany J TJ; McPhillips, Mary M; Proietto, Anthony A; Otton, Geoffrey G; Spigelman, Allan D AD; Scott, Rodney J RJ
Publication Date: 2016-05

Variant appearance in text: EXO1: 1316C>T; Thr439Met; rs4149963
PubMed Link: 26811195
Variant Present in the following documents:
  • Main text
  • CAM4-5-929.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: rs4149963
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: EXO1: T439M
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: EXO1: T439M; rs4149963
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
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: EXO1: T439M; rs4149963
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, sheet 1
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: EXO1: T439M; rs4149963
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



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: EXO1: Thr439Met
PubMed Link: 25333361
Variant Present in the following documents:
  • pone.0109576.s002.xls, sheet 3
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: EXO1: T439M; rs4149963
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Genetic susceptibility of cervical cancer.

Journal Of Biomedical Research
Chen, Xiaojun X; Jiang, Jie J; Shen, Hongbing H; Hu, Zhibin Z
Publication Date: 2011-05

Variant appearance in text: EXO1: Thr439Met; rs4149963
PubMed Link: 23554684
Variant Present in the following documents:
  • Main text
View BVdb publication page



DNA repair gene variants are associated with an increased risk of myelodysplastic syndromes in a Czech population.

Journal Of Hematology & Oncology
Belickova, Monika M; Merkerova, Michaela Dostalova MD; Stara, Eliska E; Vesela, Jitka J; Sponerova, Dana D; Mikulenkova, Dana D; Brdicka, Radim R; Neuwirtova, Radana R; Jonasova, Anna A; Cermak, Jaroslav J
Publication Date: 2013-01-22

Variant appearance in text: rs4149963
PubMed Link: 23339595
Variant Present in the following documents:
  • Main text
  • 1756-8722-6-9.pdf
View BVdb publication page



Common variants in immune and DNA repair genes and risk for human papillomavirus persistence and progression to cervical cancer.

The Journal Of Infectious Diseases
Wang, Sophia S SS; Bratti, M Concepcion MC; Rodríguez, Ana Cecilia AC; Herrero, Rolando R; Burk, Robert D RD; Porras, Carolina C; González, Paula P; Sherman, Mark E ME; Wacholder, Sholom S; Lan, Z Elizabeth ZE; Schiffman, Mark M; Chanock, Stephen J SJ; Hildesheim, Allan A
Publication Date: 2009-01-01

Variant appearance in text: EXO1: T439M; rs4149963
PubMed Link: 19012493
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nuclear localization of human DNA mismatch repair protein exonuclease 1 (hEXO1).

Nucleic Acids Research
Knudsen, Nina Østergaard NØ; Nielsen, Finn Cilius FC; Vinther, Lena L; Bertelsen, Ronni R; Holten-Andersen, Steen S; Liberti, Sascha Emilie SE; Hofstra, Robert R; Kooi, Krista K; Rasmussen, Lene Juel LJ
Publication Date: 2007

Variant appearance in text: HEX1: T439M
PubMed Link: 17426132
Variant Present in the following documents:
  • Main text
  • gkl1166.pdf
View BVdb publication page