VHL c.254T>C ;(p.L85P)

Variant ID: 3-10183785-T-C

NM_000551.3(VHL):c.254T>C;(p.L85P)

This variant was identified in 22 publications

View GRCh38 version.




Publications:


Extensive intratumor regional epigenetic heterogeneity in clear cell renal cell carcinoma targets kidney enhancers and is associated with poor outcome.

Clinical Epigenetics
El Khoury, Louis Y LY; Pan, Xiaoyu X; Hlady, Ryan A RA; Wagner, Ryan T RT; Shaikh, Shafiq S; Wang, Liguo L; Humphreys, Mitchell R MR; Castle, Erik P EP; Stanton, Melissa L ML; Ho, Thai H TH; Robertson, Keith D KD
Publication Date: 2023-04-29

Variant appearance in text: VHL: L85P
PubMed Link: 37120552
Variant Present in the following documents:
  • 13148_2023_1471_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: VHL: 254T>C; Leu85Pro
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Vasudev, Naveen S NS; Scelo, Ghislaine G; Glennon, Kate I KI; Wilson, Michelle M; Letourneau, Louis L; Eveleigh, Robert R; Nourbehesht, Nazanin N; Arseneault, Madeleine M; Paccard, Antoine A; Egevad, Lars L; Viksna, Juris J; Celms, Edgars E; Jackson, Sharon M SM; Abedi-Ardekani, Behnoush B; Warren, Anne Y AY; Selby, Peter J PJ; Trainor, Sebastian S; Kimuli, Michael M; Cartledge, Jon J; Soomro, Naeem N; Adeyoju, Adebanji A; Patel, Poulam M PM; Wozniak, Magdalena B MB; Holcatova, Ivana I; Brisuda, Antonin A; Janout, Vladimir V; Chanudet, Estelle E; Zaridze, David D; Moukeria, Anush A; Shangina, Oxana O; Foretova, Lenka L; Navratilova, Marie M; Mates, Dana D; Jinga, Viorel V; Bogdanovic, Ljiljana L; Kovacevic, Bozidar B; Cambon-Thomsen, Anne A; Bourque, Guillaume G; Brazma, Alvis A; Tost, Jörg J; Brennan, Paul P; Lathrop, Mark M; Riazalhosseini, Yasser Y; Banks, Rosamonde E RE
Publication Date: 2023-02-23

Variant appearance in text: VHL: 254T>C; Leu85Pro; rs5030828
PubMed Link: 36815791
Variant Present in the following documents:
  • ccr-22-1936_supplementary_table_s2_suppts2.xlsx, sheet 1
View BVdb publication page



A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: VHL: L85P
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Identification of a VHL gene mutation in atypical Von Hippel-Lindau syndrome: genotype-phenotype correlation and gene therapy perspective.

Cancer Cell International
Tong, Dali D; Zhang, Yao Y; Jiang, Jun J; Bi, Gang G
Publication Date: 2021-12-19

Variant appearance in text: VHL: 254T>C
PubMed Link: 34923986
Variant Present in the following documents:
  • 12935_2021_Article_2386.pdf
View BVdb publication page



Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Clinical And Translational Gastroenterology
Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD
Publication Date: 2021-11-18

Variant appearance in text: VHL: 254T>C; Leu85Pro; rs5030828
PubMed Link: 34797250
Variant Present in the following documents:
  • ct9-12-e00431-s006.xlsx, sheet 1
  • ct9-12-e00431-s005.xlsx, sheet 1
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: VHL: L85P
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer
Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA
Publication Date: 2021-05

Variant appearance in text: VHL: 254T>C; L85P
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Nature Communications
Bakouny, Ziad Z; Braun, David A DA; Shukla, Sachet A SA; Pan, Wenting W; Gao, Xin X; Hou, Yue Y; Flaifel, Abdallah A; Tang, Stephen S; Bosma-Moody, Alice A; He, Meng Xiao MX; Vokes, Natalie N; Nyman, Jackson J; Xie, Wanling W; Nassar, Amin H AH; Abou Alaiwi, Sarah S; Flippot, Ronan R; Bouchard, Gabrielle G; Steinharter, John A JA; Nuzzo, Pier Vitale PV; Ficial, Miriam M; Sant'Angelo, Miriam M; Forman, Juliet J; Berchuck, Jacob E JE; Dudani, Shaan S; Bi, Kevin K; Park, Jihye J; Camp, Sabrina S; Sticco-Ivins, Maura M; Hirsch, Laure L; Baca, Sylvan C SC; Wind-Rotolo, Megan M; Ross-Macdonald, Petra P; Sun, Maxine M; Lee, Gwo-Shu Mary GM; Chang, Steven L SL; Wei, Xiao X XX; McGregor, Bradley A BA; Harshman, Lauren C LC; Genovese, Giannicola G; Ellis, Leigh L; Pomerantz, Mark M; Hirsch, Michelle S MS; Freedman, Matthew L ML; Atkins, Michael B MB; Wu, Catherine J CJ; Ho, Thai H TH; Linehan, W Marston WM; McDermott, David F DF; Heng, Daniel Y C DYC; Viswanathan, Srinivas R SR; Signoretti, Sabina S; Van Allen, Eliezer M EM; Choueiri, Toni K TK
Publication Date: 2021-02-05

Variant appearance in text: VHL: 254T>C; L85P
PubMed Link: 33547292
Variant Present in the following documents:
  • 41467_2021_21068_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.

Journal Of Translational Medicine
Li, Jiaping J; Jiang, Wei W; Wei, Jinwang J; Zhang, Jianwei J; Cai, Linbo L; Luo, Minjie M; Wang, Zhan Z; Sun, Wending W; Wang, Shengzhou S; Wang, Chen C; Dai, Chun C; Liu, Jun J; Wang, Guan G; Wang, Jiping J; Xu, Qiang Q; Deng, Yanhong Y
Publication Date: 2020-08-01

Variant appearance in text: VHL: 254T>C; L85P
PubMed Link: 32738923
Variant Present in the following documents:
  • 12967_2020_2449_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: VHL: L85P
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Integrated Proteogenomic Characterization of Clear Cell Renal Cell Carcinoma.

Cell
Clark, David J DJ; Dhanasekaran, Saravana M SM; Petralia, Francesca F; Pan, Jianbo J; Song, Xiaoyu X; Hu, Yingwei Y; da Veiga Leprevost, Felipe F; Reva, Boris B; Lih, Tung-Shing M TM; Chang, Hui-Yin HY; Ma, Weiping W; Huang, Chen C; Ricketts, Christopher J CJ; Chen, Lijun L; Krek, Azra A; Li, Yize Y; Rykunov, Dmitry D; Li, Qing Kay QK; Chen, Lin S LS; Ozbek, Umut U; Vasaikar, Suhas S; Wu, Yige Y; Yoo, Seungyeul S; Chowdhury, Shrabanti S; Wyczalkowski, Matthew A MA; Ji, Jiayi J; Schnaubelt, Michael M; Kong, Andy A; Sethuraman, Sunantha S; Avtonomov, Dmitry M DM; Ao, Minghui M; Colaprico, Antonio A; Cao, Song S; Cho, Kyung-Cho KC; Kalayci, Selim S; Ma, Shiyong S; Liu, Wenke W; Ruggles, Kelly K; Calinawan, Anna A; Gümüş, Zeynep H ZH; Geiszler, Daniel D; Kawaler, Emily E; Teo, Guo Ci GC; Wen, Bo B; Zhang, Yuping Y; Keegan, Sarah S; Li, Kai K; Chen, Feng F; Edwards, Nathan N; Pierorazio, Phillip M PM; Chen, Xi Steven XS; Pavlovich, Christian P CP; Hakimi, A Ari AA; Brominski, Gabriel G; Hsieh, James J JJ; Antczak, Andrzej A; Omelchenko, Tatiana T; Lubinski, Jan J; Wiznerowicz, Maciej M; Linehan, W Marston WM; Kinsinger, Christopher R CR; Thiagarajan, Mathangi M; Boja, Emily S ES; Mesri, Mehdi M; Hiltke, Tara T; Robles, Ana I AI; Rodriguez, Henry H; Qian, Jiang J; Fenyö, David D; Zhang, Bing B; Ding, Li L; Schadt, Eric E; Chinnaiyan, Arul M AM; Zhang, Zhen Z; Omenn, Gilbert S GS; Cieslik, Marcin M; Chan, Daniel W DW; Nesvizhskii, Alexey I AI; Wang, Pei P; Zhang, Hui H; ,
Publication Date: 2019-10-31

Variant appearance in text: VHL: L85P
PubMed Link: 31675502
Variant Present in the following documents:
  • NIHMS1597713-supplement-Table_S7.xlsx, sheet 20
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: VHL: 254T>C; L85P
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Gender Specific Mutation Incidence and Survival Associations in Clear Cell Renal Cell Carcinoma (CCRCC).

Plos One
Ricketts, Christopher J CJ; Linehan, W Marston WM
Publication Date: 2015

Variant appearance in text: VHL: L85P
PubMed Link: 26484545
Variant Present in the following documents:
  • pone.0140257.s003.xlsx, sheet 1
View BVdb publication page



Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

The Journal Of Molecular Diagnostics : Jmd
MacConaill, Laura E LE; Garcia, Elizabeth E; Shivdasani, Priyanka P; Ducar, Matthew M; Adusumilli, Ravali R; Breneiser, Marc M; Byrne, Mark M; Chung, Lawrence L; Conneely, Jodie J; Crosby, Lauren L; Garraway, Levi A LA; Gong, Xin X; Hahn, William C WC; Hatton, Charlie C; Kantoff, Philip W PW; Kluk, Michael M; Kuo, Frank F; Jia, Yonghui Y; Joshi, Ruchi R; Longtine, Janina J; Manning, Allison A; Palescandolo, Emanuele E; Sharaf, Nematullah N; Sholl, Lynette L; van Hummelen, Paul P; Wade, Jacqueline J; Wollinson, Bruce M BM; Zepf, Dimity D; Rollins, Barrett J BJ; Lindeman, Neal I NI
Publication Date: 2014-11

Variant appearance in text: VHL: L85P
PubMed Link: 25157968
Variant Present in the following documents:
  • Main text
View BVdb publication page



An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.

Human Molecular Genetics
Gossage, Lucy L; Pires, Douglas E V DE; Olivera-Nappa, Álvaro Á; Asenjo, Juan J; Bycroft, Mark M; Blundell, Tom L TL; Eisen, Tim T
Publication Date: 2014-11-15

Variant appearance in text: VHL: L85P
PubMed Link: 24969085
Variant Present in the following documents:
  • supp_ddu321_ddu321supp_table.xlsx, sheet 2
View BVdb publication page



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: VHL: L85P
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 1
View BVdb publication page



Tumor suppressors status in cancer cell line Encyclopedia.

Molecular Oncology
Sonkin, Dmitriy D; Hassan, Mehedi M; Murphy, Denis J DJ; Tatarinova, Tatiana V TV
Publication Date: 2013-08

Variant appearance in text: VHL: L85P; rs5030828
PubMed Link: 23639312
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity.

Nature
Barretina, Jordi J; Caponigro, Giordano G; Stransky, Nicolas N; Venkatesan, Kavitha K; Margolin, Adam A AA; Kim, Sungjoon S; Wilson, Christopher J CJ; Lehár, Joseph J; Kryukov, Gregory V GV; Sonkin, Dmitriy D; Reddy, Anupama A; Liu, Manway M; Murray, Lauren L; Berger, Michael F MF; Monahan, John E JE; Morais, Paula P; Meltzer, Jodi J; Korejwa, Adam A; Jané-Valbuena, Judit J; Mapa, Felipa A FA; Thibault, Joseph J; Bric-Furlong, Eva E; Raman, Pichai P; Shipway, Aaron A; Engels, Ingo H IH; Cheng, Jill J; Yu, Guoying K GK; Yu, Jianjun J; Aspesi, Peter P; de Silva, Melanie M; Jagtap, Kalpana K; Jones, Michael D MD; Wang, Li L; Hatton, Charles C; Palescandolo, Emanuele E; Gupta, Supriya S; Mahan, Scott S; Sougnez, Carrie C; Onofrio, Robert C RC; Liefeld, Ted T; MacConaill, Laura L; Winckler, Wendy W; Reich, Michael M; Li, Nanxin N; Mesirov, Jill P JP; Gabriel, Stacey B SB; Getz, Gad G; Ardlie, Kristin K; Chan, Vivien V; Myer, Vic E VE; Weber, Barbara L BL; Porter, Jeff J; Warmuth, Markus M; Finan, Peter P; Harris, Jennifer L JL; Meyerson, Matthew M; Golub, Todd R TR; Morrissey, Michael P MP; Sellers, William R WR; Schlegel, Robert R; Garraway, Levi A LA
Publication Date: 2012-03-28

Variant appearance in text: VHL: 254T>C; L85P; rs5030828
PubMed Link: 22460905
Variant Present in the following documents:
  • NIHMS361223-supplement-4.xlsx, sheet 3
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: VHL: L85P
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Mutations in the von hippel-lindau tumour suppressor gene in central nervous system hemangioblastomas.

Hereditary Cancer In Clinical Practice
Cybulski, Cezary C; Matyjasik, Joanna J; Soroka, Marianna M; Szymaś, Janusz J; Górski, Bohdan B; Debniak, Tadeusz T; Jakubowska, Anna A; Bernaczyk, Andrzej A; Zimnoch, Lech L; Bierzyńska-Macyszyn, Grazyna G; Trojanowski, Tomasz T; Wierzba-Bobrowicz, Teresa T; Prudlak, Edmund E; Markowska-Wojciechowska, Alicja A; Nowacki, Przemysław P; Roszkiewicz, Andrzej A; Kordek, Radzisław R; Szylberg, Tadeusz T; Matyja, Ewa E; Zieliński, Krzysztof K; Woźniewicz, Bogdan B; Taraszewska, Anna A; Kozłowski, Wojciech W; Lubiński, Jan J
Publication Date: 2004-03-15

Variant appearance in text: VHL: Leu85Pro
PubMed Link: 20233476
Variant Present in the following documents:
  • Main text
  • 1897-4287-2-2-93.pdf
View BVdb publication page



Profiling critical cancer gene mutations in clinical tumor samples.

Plos One
MacConaill, Laura E LE; Campbell, Catarina D CD; Kehoe, Sarah M SM; Bass, Adam J AJ; Hatton, Charles C; Niu, Lili L; Davis, Matt M; Yao, Keluo K; Hanna, Megan M; Mondal, Chandrani C; Luongo, Lauren L; Emery, Caroline M CM; Baker, Alissa C AC; Philips, Juliet J; Goff, Deborah J DJ; Fiorentino, Michelangelo M; Rubin, Mark A MA; Polyak, Kornelia K; Chan, Jennifer J; Wang, Yuexiang Y; Fletcher, Jonathan A JA; Santagata, Sandro S; Corso, Gianni G; Roviello, Franco F; Shivdasani, Ramesh R; Kieran, Mark W MW; Ligon, Keith L KL; Stiles, Charles D CD; Hahn, William C WC; Meyerson, Matthew L ML; Garraway, Levi A LA
Publication Date: 2009-11-18

Variant appearance in text: VHL: L85P
PubMed Link: 19924296
Variant Present in the following documents:
  • pone.0007887.s002.xls, sheet 1
View BVdb publication page