INCENP c.1517T>C ;(p.M506T)

Variant ID: 11-61908440-T-C

NM_001040694.1(INCENP):c.1517T>C;(p.M506T)

This variant was identified in 36 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: INCENP: M506T
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
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: INCENP: M506T
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM2_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: INCENP: M506T; rs2277283
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



Prostate cancer risk stratification improvement across multiple ancestries with new polygenic hazard score.

Prostate Cancer And Prostatic Diseases
Huynh-Le, Minh-Phuong MP; Karunamuni, Roshan R; Fan, Chun Chieh CC; Asona, Lui L; Thompson, Wesley K WK; Martinez, Maria Elena ME; Eeles, Rosalind A RA; Kote-Jarai, Zsofia Z; Muir, Kenneth R KR; Lophatananon, Artitaya A; Schleutker, Johanna J; Pashayan, Nora N; Batra, Jyotsna J; Grönberg, Henrik H; Neal, David E DE; Nordestgaard, Børge G BG; Tangen, Catherine M CM; MacInnis, Robert J RJ; Wolk, Alicja A; Albanes, Demetrius D; Haiman, Christopher A CA; Travis, Ruth C RC; Blot, William J WJ; Stanford, Janet L JL; Mucci, Lorelei A LA; West, Catharine M L CML; Nielsen, Sune F SF; Kibel, Adam S AS; Cussenot, Olivier O; Berndt, Sonja I SI; Koutros, Stella S; Sørensen, Karina Dalsgaard KD; Cybulski, Cezary C; Grindedal, Eli Marie EM; Menegaux, Florence F; Park, Jong Y JY; Ingles, Sue A SA; Maier, Christiane C; Hamilton, Robert J RJ; Rosenstein, Barry S BS; Lu, Yong-Jie YJ; Watya, Stephen S; Vega, Ana A; Kogevinas, Manolis M; Wiklund, Fredrik F; Penney, Kathryn L KL; Huff, Chad D CD; Teixeira, Manuel R MR; Multigner, Luc L; Leach, Robin J RJ; Brenner, Hermann H; John, Esther M EM; Kaneva, Radka R; Logothetis, Christopher J CJ; Neuhausen, Susan L SL; De Ruyck, Kim K; Ost, Piet P; Razack, Azad A; Newcomb, Lisa F LF; Fowke, Jay H JH; Gamulin, Marija M; Abraham, Aswin A; Claessens, Frank F; Castelao, Jose Esteban JE; Townsend, Paul A PA; Crawford, Dana C DC; Petrovics, Gyorgy G; van Schaik, Ron H N RHN; Parent, Marie-Élise MÉ; Hu, Jennifer J JJ; Zheng, Wei W; , ; , ; , ; , ; , ; , ; , ; Mills, Ian G IG; Andreassen, Ole A OA; Dale, Anders M AM; Seibert, Tyler M TM
Publication Date: 2022-04

Variant appearance in text: rs2277283
PubMed Link: 35152271
Variant Present in the following documents:
  • 41391_2022_497_MOESM1_ESM.pdf
View BVdb publication page



Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology
Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y
Publication Date: 2021

Variant appearance in text: INCENP: M506T
PubMed Link: 35095878
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology
Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC
Publication Date: 2021

Variant appearance in text: INCENP: M506T
PubMed Link: 34858801
Variant Present in the following documents:
  • Table_1.xls, 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: 2021-10-19

Variant appearance in text: INCENP: M506T; rs2277283
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: INCENP: M506T; rs2277283
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 9
  • mmc2.xlsx, sheet 4
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
  • mmc2.xlsx, sheet 6
View BVdb publication page



Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.

Scientific Reports
Khoruddin, Nurul Ain NA; Noorizhab, Mohd NurFakhruzzaman MN; Teh, Lay Kek LK; Mohd Yusof, Farida Zuraina FZ; Salleh, Mohd Zaki MZ
Publication Date: 2021-08-09

Variant appearance in text: INCENP: M506T; rs2277283
PubMed Link: 34373545
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_95618.pdf
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: INCENP: 1517T>C; M506T; rs2277283
PubMed Link: 33770142
Variant Present in the following documents:
  • 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: INCENP: M506T
PubMed Link: 33212010
Variant Present in the following documents:
  • NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5
View BVdb publication page



Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.

International Journal Of Molecular Sciences
Brandão, Andreia A; Paulo, Paula P; Teixeira, Manuel R MR
Publication Date: 2020-07-16

Variant appearance in text: rs2277283
PubMed Link: 32708810
Variant Present in the following documents:
  • ijms-21-05036-s001.pdf
View BVdb publication page



Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications
Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R
Publication Date: 2020-05-20

Variant appearance in text: INCENP: 1517T>C; Met506Thr; rs2277283
PubMed Link: 32433464
Variant Present in the following documents:
  • 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1
  • 41467_2020_16399_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs2277283
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_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: INCENP: M506T
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
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: INCENP: M506T
PubMed Link: 31900393
Variant Present in the following documents:
  • 41467_2019_13771_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: INCENP: 1517T>C; Met506Thr
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 5
  • Supplementary_Data2.xlsx, sheet 1
  • Supplementary_Data2.xlsx, sheet 9
  • Supplementary_Data2.xlsx, sheet 2
  • Supplementary_Data2.xlsx, sheet 3
  • Supplementary_Data2.xlsx, sheet 10
  • Supplementary_Data2.xlsx, sheet 7
  • Supplementary_Data2.xlsx, sheet 4
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: INCENP: M506T; rs2277283
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_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: INCENP: M506T; rs2277283
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 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: rs2277283
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_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: INCENP: M506T; rs2277283
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: INCENP: M506T; rs2277283
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-7.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: INCENP: 1517T>C; Met506Thr; rs2277283
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.

Nature Genetics
Schumacher, Fredrick R FR; Al Olama, Ali Amin AA; Berndt, Sonja I SI; Benlloch, Sara S; Ahmed, Mahbubl M; Saunders, Edward J EJ; Dadaev, Tokhir T; Leongamornlert, Daniel D; Anokian, Ezequiel E; Cieza-Borrella, Clara C; Goh, Chee C; Brook, Mark N MN; Sheng, Xin X; Fachal, Laura L; Dennis, Joe J; Tyrer, Jonathan J; Muir, Kenneth K; Lophatananon, Artitaya A; Stevens, Victoria L VL; Gapstur, Susan M SM; Carter, Brian D BD; Tangen, Catherine M CM; Goodman, Phyllis J PJ; Thompson, Ian M IM; Batra, Jyotsna J; Chambers, Suzanne S; Moya, Leire L; Clements, Judith J; Horvath, Lisa L; Tilley, Wayne W; Risbridger, Gail P GP; Gronberg, Henrik H; Aly, Markus M; Nordström, Tobias T; Pharoah, Paul P; Pashayan, Nora N; Schleutker, Johanna J; Tammela, Teuvo L J TLJ; Sipeky, Csilla C; Auvinen, Anssi A; Albanes, Demetrius D; Weinstein, Stephanie S; Wolk, Alicja A; Håkansson, Niclas N; West, Catharine M L CML; Dunning, Alison M AM; Burnet, Neil N; Mucci, Lorelei A LA; Giovannucci, Edward E; Andriole, Gerald L GL; Cussenot, Olivier O; Cancel-Tassin, Géraldine G; Koutros, Stella S; Beane Freeman, Laura E LE; Sorensen, Karina Dalsgaard KD; Orntoft, Torben Falck TF; Borre, Michael M; Maehle, Lovise L; Grindedal, Eli Marie EM; Neal, David E DE; Donovan, Jenny L JL; Hamdy, Freddie C FC; Martin, Richard M RM; Travis, Ruth C RC; Key, Tim J TJ; Hamilton, Robert J RJ; Fleshner, Neil E NE; Finelli, Antonio A; Ingles, Sue Ann SA; Stern, Mariana C MC; Rosenstein, Barry S BS; Kerns, Sarah L SL; Ostrer, Harry H; Lu, Yong-Jie YJ; Zhang, Hong-Wei HW; Feng, Ninghan N; Mao, Xueying X; Guo, Xin X; Wang, Guomin G; Sun, Zan Z; Giles, Graham G GG; Southey, Melissa C MC; MacInnis, Robert J RJ; FitzGerald, Liesel M LM; Kibel, Adam S AS; Drake, Bettina F BF; Vega, Ana A; Gómez-Caamaño, Antonio A; Szulkin, Robert R; Eklund, Martin M; Kogevinas, Manolis M; Llorca, Javier J; Castaño-Vinyals, Gemma G; Penney, Kathryn L KL; Stampfer, Meir M; Park, Jong Y JY; Sellers, Thomas A TA; Lin, Hui-Yi HY; Stanford, Janet L JL; Cybulski, Cezary C; Wokolorczyk, Dominika D; Lubinski, Jan J; Ostrander, Elaine A EA; Geybels, Milan S MS; Nordestgaard, Børge G BG; Nielsen, Sune F SF; Weischer, Maren M; Bisbjerg, Rasmus R; Røder, Martin Andreas MA; Iversen, Peter P; Brenner, Hermann H; Cuk, Katarina K; Holleczek, Bernd B; Maier, Christiane C; Luedeke, Manuel M; Schnoeller, Thomas T; Kim, Jeri J; Logothetis, Christopher J CJ; John, Esther M EM; Teixeira, Manuel R MR; Paulo, Paula P; Cardoso, Marta M; Neuhausen, Susan L SL; Steele, Linda L; Ding, Yuan Chun YC; De Ruyck, Kim K; De Meerleer, Gert G; Ost, Piet P; Razack, Azad A; Lim, Jasmine J; Teo, Soo-Hwang SH; Lin, Daniel W DW; Newcomb, Lisa F LF; Lessel, Davor D; Gamulin, Marija M; Kulis, Tomislav T; Kaneva, Radka R; Usmani, Nawaid N; Singhal, Sandeep S; Slavov, Chavdar C; Mitev, Vanio V; Parliament, Matthew M; Claessens, Frank F; Joniau, Steven S; Van den Broeck, Thomas T; Larkin, Samantha S; Townsend, Paul A PA; Aukim-Hastie, Claire C; Gago-Dominguez, Manuela M; Castelao, Jose Esteban JE; Martinez, Maria Elena ME; Roobol, Monique J MJ; Jenster, Guido G; van Schaik, Ron H N RHN; Menegaux, Florence F; Truong, Thérèse T; Koudou, Yves Akoli YA; Xu, Jianfeng J; Khaw, Kay-Tee KT; Cannon-Albright, Lisa L; Pandha, Hardev H; Michael, Agnieszka A; Thibodeau, Stephen N SN; McDonnell, Shannon K SK; Schaid, Daniel J DJ; Lindstrom, Sara S; Turman, Constance C; Ma, Jing J; Hunter, David J DJ; Riboli, Elio E; Siddiq, Afshan A; Canzian, Federico F; Kolonel, Laurence N LN; Le Marchand, Loic L; Hoover, Robert N RN; Machiela, Mitchell J MJ; Cui, Zuxi Z; Kraft, Peter P; Amos, Christopher I CI; Conti, David V DV; Easton, Douglas F DF; Wiklund, Fredrik F; Chanock, Stephen J SJ; Henderson, Brian E BE; Kote-Jarai, Zsofia Z; Haiman, Christopher A CA; Eeles, Rosalind A RA; , ; , ; , ; , ; , ; , ; , ; , ; ,
Publication Date: 2018-07

Variant appearance in text: rs2277283
PubMed Link: 29892016
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: rs2277283
PubMed Link: 29500430
Variant Present in the following documents:
  • 41467_2018_3311_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



A Review of Prostate Cancer Genome-Wide Association Studies (GWAS).

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Benafif, Sarah S; Kote-Jarai, Zsofia Z; Eeles, Rosalind A RA; ,
Publication Date: 2018-08

Variant appearance in text: rs2277283
PubMed Link: 29348298
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: INCENP: M506T; rs2277283
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
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: INCENP: M506T
PubMed Link: 27251275
Variant Present in the following documents:
  • NIHMS778057-supplement-supp_table5.xlsx, sheet 2
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: rs2277283
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: INCENP: M506T
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: INCENP: M506T; rs2277283
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Exome Sequencing of Normal and Isogenic Transformed Human Colonic Epithelial Cells (HCECs) Reveals Novel Genes Potentially Involved in the Early Stages of Colorectal Tumorigenesis.

Bmc Genomics
Zhang, Lu L; Kim, Sang S; Jia, Gaoxiang G; Buhmeida, Abdelbaset A; Dallol, Ashraf A; Wright, Woodring E WE; Fornace, Albert J AJ; Al-Qahtani, Mohammed M; Shay, Jerry W JW
Publication Date: 2015

Variant appearance in text: INCENP: M506T
PubMed Link: 25923178
Variant Present in the following documents:
  • Main text
  • 1471-2164-16-S1-S8.pdf
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: INCENP: M506T; rs2277283
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: INCENP: M506T
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_ESM.xlsx, 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: INCENP: M506T; rs2277283
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

Nature Genetics
Buczkowicz, Pawel P; Hoeman, Christine C; Rakopoulos, Patricia P; Pajovic, Sanja S; Letourneau, Louis L; Dzamba, Misko M; Morrison, Andrew A; Lewis, Peter P; Bouffet, Eric E; Bartels, Ute U; Zuccaro, Jennifer J; Agnihotri, Sameer S; Ryall, Scott S; Barszczyk, Mark M; Chornenkyy, Yevgen Y; Bourgey, Mathieu M; Bourque, Guillaume G; Montpetit, Alexandre A; Cordero, Francisco F; Castelo-Branco, Pedro P; Mangerel, Joshua J; Tabori, Uri U; Ho, King Ching KC; Huang, Annie A; Taylor, Kathryn R KR; Mackay, Alan A; Bendel, Anne E AE; Nazarian, Javad J; Fangusaro, Jason R JR; Karajannis, Matthias A MA; Zagzag, David D; Foreman, Nicholas K NK; Donson, Andrew A; Hegert, Julia V JV; Smith, Amy A; Chan, Jennifer J; Lafay-Cousin, Lucy L; Dunn, Sandra S; Hukin, Juliette J; Dunham, Chris C; Scheinemann, Katrin K; Michaud, Jean J; Zelcer, Shayna S; Ramsay, David D; Cain, Jason J; Brennan, Cameron C; Souweidane, Mark M MM; Jones, Chris C; Allis, C David CD; Brudno, Michael M; Becher, Oren O; Hawkins, Cynthia C
Publication Date: 2014-05

Variant appearance in text: INCENP: M506T
PubMed Link: 24705254
Variant Present in the following documents:
  • NIHMS4215-supplement-10.xlsx, sheet 2
View BVdb publication page