VHL c.194C>A ;(p.S65*)

Variant ID: 3-10183725-C-A

NM_000551.3(VHL):c.194C>A;(p.S65*)

This variant was identified in 28 publications

View GRCh38 version.




Publications:


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: 194C>A; Ser65Ter
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: 194C>A; Ser65*; rs5030826
PubMed Link: 36815791
Variant Present in the following documents:
  • ccr-22-1936_supplementary_table_s2_suppts2.xlsx, sheet 1
View BVdb publication page



A Molecularly Characterized Preclinical Platform of Subcutaneous Renal Cell Carcinoma (RCC) Patient-Derived Xenograft Models to Evaluate Novel Treatment Strategies.

Frontiers In Oncology
Gürgen, Dennis D; Becker, Michael M; Dahlmann, Mathias M; Flechsig, Susanne S; Schaeffeler, Elke E; Büttner, Florian A FA; Schmees, Christian C; Bohnert, Regina R; Bedke, Jens J; Schwab, Matthias M; Wendler, Johann J JJ; Schostak, Martin M; Jandrig, Burkhard B; Walther, Wolfgang W; Hoffmann, Jens J
Publication Date: 2022

Variant appearance in text: VHL: S65*; rs5030826
PubMed Link: 35800063
Variant Present in the following documents:
  • DataSheet_1.pdf
View BVdb publication page



VHL Ser65 mutations enhance HIF2α signaling and promote epithelial-mesenchymal transition of renal cancer cells.

Cell & Bioscience
Ma, Xueyou X; Tan, Zenglai Z; Zhang, Qin Q; Ma, Kaifang K; Xiao, Jun J; Wang, Xiong X; Wang, Yanan Y; Zhong, Mengjie M; Wang, Yu Y; Li, Jing J; Zeng, Xing X; Guan, Wei W; Wang, Shaogang S; Gong, Kan K; Wei, Gong-Hong GH; Wang, Zhihua Z
Publication Date: 2022-05-03

Variant appearance in text: VHL: Ser65Ter
PubMed Link: 35505422
Variant Present in the following documents:
  • Main text
  • 13578_2022_Article_790.pdf
View BVdb publication page



The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.

Genes
Hudler, Petra P; Urbancic, Mojca M
Publication Date: 2022-02-17

Variant appearance in text: VHL: 194C>A; S65*
PubMed Link: 35205407
Variant Present in the following documents:
  • Main text
  • genes-13-00362.pdf
View BVdb publication page



Mutation Profile Variability in the Primary Tumor and Multiple Pulmonary Metastases of Clear Cell Renal Cell Carcinoma. A Review of the Literature and Analysis of Four Metastatic Cases.

Cancers
Prochazkova, Kristyna K; Ptakova, Nikola N; Alaghehbandan, Reza R; Williamson, Sean R SR; Vaněček, Tomáš T; Vodicka, Josef J; Treska, Vladislav V; Rogala, Joanna J; Pivovarcikova, Kristyna K; Michalova, Kvetoslava K; Slisarenko, Maryna M; Hora, Milan M; Michal, Michal M; Hes, Ondrej O
Publication Date: 2021-11-24

Variant appearance in text: VHL: 194C>A; Ser65Ter
PubMed Link: 34885018
Variant Present in the following documents:
  • Main text
  • cancers-13-05906.pdf
View BVdb publication page



Mutation Profile Variability in the Primary Tumor and Multiple Pulmonary Metastases of Clear Cell Renal Cell Carcinoma. A Review of the Literature and Analysis of Four Metastatic Cases.

Cancers
Prochazkova, Kristyna K; Ptakova, Nikola N; Alaghehbandan, Reza R; Williamson, Sean R SR; Vaněček, Tomáš T; Vodicka, Josef J; Treska, Vladislav V; Rogala, Joanna J; Pivovarcikova, Kristyna K; Michalova, Kvetoslava K; Slisarenko, Maryna M; Hora, Milan M; Michal, Michal M; Hes, Ondrej O
Publication Date: 2021-11-24

Variant appearance in text: VHL: 194C>A; Ser65Ter
PubMed Link: 34885018
Variant Present in the following documents:
  • Main text
  • cancers-13-05906.pdf
View BVdb publication page



Risk prediction for metastasis of clear cell renal cell carcinoma using digital multiplex ligation-dependent probe amplification.

Cancer Science
Yoshikawa, Yoshie Y; Yamada, Yusuke Y; Emi, Mitsuru M; Atanesyan, Lilit L; Smout, Jan J; de Groot, Karel K; Savola, Suvi S; Nakanishi-Shinkai, Yukako Y; Kanematsu, Akihiro A; Nojima, Michio M; Ohmuraya, Masaki M; Hashimoto-Tamaoki, Tomoko T; Yamamoto, Shingo S
Publication Date: 2022-01

Variant appearance in text: VHL: S65X
PubMed Link: 34687579
Variant Present in the following documents:
  • CAS-113-297-s001.xlsx, sheet 3
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: 194C>A; S65*
PubMed Link: 33547292
Variant Present in the following documents:
  • 41467_2021_21068_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine
Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ
Publication Date: 2020-10-27

Variant appearance in text: VHL: S65*
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
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: 194C>A; S65*
PubMed Link: 32738923
Variant Present in the following documents:
  • 12967_2020_2449_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: VHL: S65*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: VHL: 194C>A; S65*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Identification of 12 cancer types through genome deep learning.

Scientific Reports
Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W
Publication Date: 2019-11-21

Variant appearance in text: VHL: S65*
PubMed Link: 31754222
Variant Present in the following documents:
  • 41598_2019_53989_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: rs5030826
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Analysis of error profiles in deep next-generation sequencing data.

Genome Biology
Ma, Xiaotu X; Shao, Ying Y; Tian, Liqing L; Flasch, Diane A DA; Mulder, Heather L HL; Edmonson, Michael N MN; Liu, Yu Y; Chen, Xiang X; Newman, Scott S; Nakitandwe, Joy J; Li, Yongjin Y; Li, Benshang B; Shen, Shuhong S; Wang, Zhaoming Z; Shurtleff, Sheila S; Robison, Leslie L LL; Levy, Shawn S; Easton, John J; Zhang, Jinghui J
Publication Date: 2019-03-14

Variant appearance in text: VHL: S65*
PubMed Link: 30867008
Variant Present in the following documents:
  • 13059_2019_1659_MOESM1_ESM.xlsx, sheet 7
View BVdb publication page



An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.

Scientific Reports
Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U
Publication Date: 2018-09-10

Variant appearance in text: VHL: S65*
PubMed Link: 30202034
Variant Present in the following documents:
  • 41598_2018_31659_MOESM2_ESM.xlsx, sheet 30
View BVdb publication page



Single-cell genetic analysis validates cytopathological identification of circulating cancer cells in patients with clear cell renal cell carcinoma.

Oncotarget
Broncy, Lucile L; Njima, Basma Ben BB; Méjean, Arnaud A; Béroud, Christophe C; Romdhane, Khaled Ben KB; Ilie, Marius M; Hofman, Veronique V; Muret, Jane J; Hofman, Paul P; Bouhamed, Habiba Chaabouni HC; Paterlini-Bréchot, And Patrizia AP
Publication Date: 2018-04-13

Variant appearance in text: VHL: 194C>A; S65X
PubMed Link: 29732003
Variant Present in the following documents:
  • Main text
  • oncotarget-09-20058.pdf
View BVdb publication page



Tracking Cancer Evolution Reveals Constrained Routes to Metastases: TRACERx Renal.

Cell
Turajlic, Samra S; Xu, Hang H; Litchfield, Kevin K; Rowan, Andrew A; Chambers, Tim T; Lopez, Jose I JI; Nicol, David D; O'Brien, Tim T; Larkin, James J; Horswell, Stuart S; Stares, Mark M; Au, Lewis L; Jamal-Hanjani, Mariam M; Challacombe, Ben B; Chandra, Ashish A; Hazell, Steve S; Eichler-Jonsson, Claudia C; Soultati, Aspasia A; Chowdhury, Simon S; Rudman, Sarah S; Lynch, Joanna J; Fernando, Archana A; Stamp, Gordon G; Nye, Emma E; Jabbar, Faiz F; Spain, Lavinia L; Lall, Sharanpreet S; Guarch, Rosa R; Falzon, Mary M; Proctor, Ian I; Pickering, Lisa L; Gore, Martin M; Watkins, Thomas B K TBK; Ward, Sophia S; Stewart, Aengus A; DiNatale, Renzo R; Becerra, Maria F MF; Reznik, Ed E; Hsieh, James J JJ; Richmond, Todd A TA; Mayhew, George F GF; Hill, Samantha M SM; McNally, Catherine D CD; Jones, Carol C; Rosenbaum, Heidi H; Stanislaw, Stacey S; Burgess, Daniel L DL; Alexander, Nelson R NR; Swanton, Charles C; , ; ,
Publication Date: 2018-04-19

Variant appearance in text: VHL: S65X
PubMed Link: 29656895
Variant Present in the following documents:
  • mmc6.xlsx, sheet 3
View BVdb publication page



Deterministic Evolutionary Trajectories Influence Primary Tumor Growth: TRACERx Renal.

Cell
Turajlic, Samra S; Xu, Hang H; Litchfield, Kevin K; Rowan, Andrew A; Horswell, Stuart S; Chambers, Tim T; O'Brien, Tim T; Lopez, Jose I JI; Watkins, Thomas B K TBK; Nicol, David D; Stares, Mark M; Challacombe, Ben B; Hazell, Steve S; Chandra, Ashish A; Mitchell, Thomas J TJ; Au, Lewis L; Eichler-Jonsson, Claudia C; Jabbar, Faiz F; Soultati, Aspasia A; Chowdhury, Simon S; Rudman, Sarah S; Lynch, Joanna J; Fernando, Archana A; Stamp, Gordon G; Nye, Emma E; Stewart, Aengus A; Xing, Wei W; Smith, Jonathan C JC; Escudero, Mickael M; Huffman, Adam A; Matthews, Nik N; Elgar, Greg G; Phillimore, Ben B; Costa, Marta M; Begum, Sharmin S; Ward, Sophia S; Salm, Max M; Boeing, Stefan S; Fisher, Rosalie R; Spain, Lavinia L; Navas, Carolina C; Grönroos, Eva E; Hobor, Sebastijan S; Sharma, Sarkhara S; Aurangzeb, Ismaeel I; Lall, Sharanpreet S; Polson, Alexander A; Varia, Mary M; Horsfield, Catherine C; Fotiadis, Nicos N; Pickering, Lisa L; Schwarz, Roland F RF; Silva, Bruno B; Herrero, Javier J; Luscombe, Nick M NM; Jamal-Hanjani, Mariam M; Rosenthal, Rachel R; Birkbak, Nicolai J NJ; Wilson, Gareth A GA; Pipek, Orsolya O; Ribli, Dezso D; Krzystanek, Marcin M; Csabai, Istvan I; Szallasi, Zoltan Z; Gore, Martin M; McGranahan, Nicholas N; Van Loo, Peter P; Campbell, Peter P; Larkin, James J; Swanton, Charles C; ,
Publication Date: 2018-04-19

Variant appearance in text: VHL: S65X
PubMed Link: 29656894
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma.

Cell Reports
Ricketts, Christopher J CJ; De Cubas, Aguirre A AA; Fan, Huihui H; Smith, Christof C CC; Lang, Martin M; Reznik, Ed E; Bowlby, Reanne R; Gibb, Ewan A EA; Akbani, Rehan R; Beroukhim, Rameen R; Bottaro, Donald P DP; Choueiri, Toni K TK; Gibbs, Richard A RA; Godwin, Andrew K AK; Haake, Scott S; Hakimi, A Ari AA; Henske, Elizabeth P EP; Hsieh, James J JJ; Ho, Thai H TH; Kanchi, Rupa S RS; Krishnan, Bhavani B; Kwiatkowski, David J DJ; Lui, Wembin W; Merino, Maria J MJ; Mills, Gordon B GB; Myers, Jerome J; Nickerson, Michael L ML; Reuter, Victor E VE; Schmidt, Laura S LS; Shelley, C Simon CS; Shen, Hui H; Shuch, Brian B; Signoretti, Sabina S; Srinivasan, Ramaprasad R; Tamboli, Pheroze P; Thomas, George G; Vincent, Benjamin G BG; Vocke, Cathy D CD; Wheeler, David A DA; Yang, Lixing L; Kim, William Y WY; Robertson, A Gordon AG; , ; Spellman, Paul T PT; Rathmell, W Kimryn WK; Linehan, W Marston WM
Publication Date: 2018-04-03

Variant appearance in text: VHL: 194C>A; S65*
PubMed Link: 29617669
Variant Present in the following documents:
  • NIHMS958988-supplement-3.xlsx, sheet 1
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: Ser65Ter
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance.

Bmc Cancer
Razafinjatovo, Caroline C; Bihr, Svenja S; Mischo, Axel A; Vogl, Ursula U; Schmidinger, Manuela M; Moch, Holger H; Schraml, Peter P
Publication Date: 2016-08-17

Variant appearance in text: VHL: 194C>A; Ser65X
PubMed Link: 27530247
Variant Present in the following documents:
  • 12885_2016_2688_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: VHL: 194C>A; S65*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Genomic characterization of sarcomatoid transformation in clear cell renal cell carcinoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Bi, Mark M; Zhao, Siming S; Said, Jonathan W JW; Merino, Maria J MJ; Adeniran, Adebowale J AJ; Xie, Zuoquan Z; Nawaf, Cayce B CB; Choi, Jaehyuk J; Belldegrun, Arie S AS; Pantuck, Allan J AJ; Kluger, Harriet M HM; Bilgüvar, Kaya K; Lifton, Richard P RP; Shuch, Brian B
Publication Date: 2016-02-23

Variant appearance in text: VHL: S65X
PubMed Link: 26864202
Variant Present in the following documents:
  • Main text
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: S65*
PubMed Link: 26484545
Variant Present in the following documents:
  • pone.0140257.s003.xlsx, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: VHL: S65*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-7.xlsx, sheet 1
View BVdb publication page



Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma.

International Journal Of Oncology
Taylor, Claire C; Craven, Rachel A RA; Harnden, Patricia P; Selby, Peter J PJ; Banks, Rosamonde E RE
Publication Date: 2012-10

Variant appearance in text: VHL: 194C>A; S65*
PubMed Link: 22825683
Variant Present in the following documents:
  • Main text
  • ijo-41-04-1229.pdf
View BVdb publication page



Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.

Nature
Dalgliesh, Gillian L GL; Furge, Kyle K; Greenman, Chris C; Chen, Lina L; Bignell, Graham G; Butler, Adam A; Davies, Helen H; Edkins, Sarah S; Hardy, Claire C; Latimer, Calli C; Teague, Jon J; Andrews, Jenny J; Barthorpe, Syd S; Beare, Dave D; Buck, Gemma G; Campbell, Peter J PJ; Forbes, Simon S; Jia, Mingming M; Jones, David D; Knott, Henry H; Kok, Chai Yin CY; Lau, King Wai KW; Leroy, Catherine C; Lin, Meng-Lay ML; McBride, David J DJ; Maddison, Mark M; Maguire, Simon S; McLay, Kirsten K; Menzies, Andrew A; Mironenko, Tatiana T; Mulderrig, Lee L; Mudie, Laura L; O'Meara, Sarah S; Pleasance, Erin E; Rajasingham, Arjunan A; Shepherd, Rebecca R; Smith, Raffaella R; Stebbings, Lucy L; Stephens, Philip P; Tang, Gurpreet G; Tarpey, Patrick S PS; Turrell, Kelly K; Dykema, Karl J KJ; Khoo, Sok Kean SK; Petillo, David D; Wondergem, Bill B; Anema, John J; Kahnoski, Richard J RJ; Teh, Bin Tean BT; Stratton, Michael R MR; Futreal, P Andrew PA
Publication Date: 2010-01-21

Variant appearance in text: VHL: 194C>A; S65*
PubMed Link: 20054297
Variant Present in the following documents:
  • NIHMS28099-supplement-7.xls, sheet 1
View BVdb publication page