VHL c.533T>C ;(p.L178P)

Variant ID: 3-10191540-T-C

NM_000551.3(VHL):c.533T>C;(p.L178P)

This variant was identified in 24 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: 533T>C; Leu178Pro
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: 533T>C; Leu178Pro
PubMed Link: 36815791
Variant Present in the following documents:
  • ccr-22-1936_supplementary_table_s2_suppts2.xlsx, sheet 1
View BVdb publication page



Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications
Boström, Martin M; Larsson, Erik E
Publication Date: 2022-11-17

Variant appearance in text: VHL: L178P
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology
Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN
Publication Date: 2021

Variant appearance in text: VHL: L178P
PubMed Link: 34113354
Variant Present in the following documents:
  • Table_1.xlsx, sheet 12
View BVdb publication page



Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications
Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L
Publication Date: 2021-04-19

Variant appearance in text: VHL: L178P
PubMed Link: 33875650
Variant Present in the following documents:
  • 41467_2021_22481_MOESM4_ESM.xlsx, sheet 6
  • 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



The VHL/HIF Axis in the Development and Treatment of Pheochromocytoma/Paraganglioma.

Frontiers In Endocrinology
Peng, Song S; Zhang, Jun J; Tan, Xintao X; Huang, Yiqiang Y; Xu, Jing J; Silk, Natalie N; Zhang, Dianzheng D; Liu, Qiuli Q; Jiang, Jun J
Publication Date: 2020

Variant appearance in text: VHL: Leu178Pro
PubMed Link: 33329393
Variant Present in the following documents:
  • Main text
  • fendo-11-586857.pdf
View BVdb publication page



Genomic Analysis Reveals Novel Specific Metastatic Mutations in Chinese Clear Cell Renal Cell Carcinoma.

Biomed Research International
Meng, Hui H; Jiang, Xuewen X; Cui, Jianfeng J; Yin, Gang G; Shi, Benkang B; Liu, Qi Q; Xuan, He H; Wang, Yu Y
Publication Date: 2020

Variant appearance in text: VHL: 533T>C; Leu178Pro
PubMed Link: 33062672
Variant Present in the following documents:
  • 2495157.f1.xlsx, sheet 5
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: 533T>C; L178P
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: L178P
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: 533T>C; L178P
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: L178P
PubMed Link: 31754222
Variant Present in the following documents:
  • 41598_2019_53989_MOESM4_ESM.xlsx, sheet 5
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: L178P
PubMed Link: 31675502
Variant Present in the following documents:
  • NIHMS1597713-supplement-Table_S7.xlsx, sheet 20
View BVdb publication page



Renal Cell Carcinoma: Molecular Aspects.

Indian Journal Of Clinical Biochemistry : Ijcb
Kumar, Aman A; Kumari, Niti N; Gupta, Vinny V; Prasad, Rajendra R
Publication Date: 2018-07

Variant appearance in text: VHL: Leu178Pro
PubMed Link: 30072823
Variant Present in the following documents:
  • Main text
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: L178P
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: L178P
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: 533T>C; L178P
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: Leu178Pro; rs5030822
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
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: VHL: L178P; rs5030822
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.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: L178P
PubMed Link: 26484545
Variant Present in the following documents:
  • pone.0140257.s003.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: VHL: L178P; rs5030822
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
  • 12859_2015_673_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24

Variant appearance in text: VHL: 533T>C; L178P; rs5030822
PubMed Link: 25589003
Variant Present in the following documents:
  • 40478_2014_167_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease.

Chinese Medical Journal
Zhang, Jingyao J; Ma, Jie J; Du, Xiaoyun X; Wu, Dapeng D; Ai, Hong H; Bai, Jigang J; Dong, Shunbin S; Yang, Qinling Q; Qu, Kai K; Lyu, Yi Y; Valenzuela, Robert K RK; Liu, Chang C
Publication Date: 2015-01-05

Variant appearance in text: VHL: L178P
PubMed Link: 25563310
Variant Present in the following documents:
  • CMJ-128-32.pdf
View BVdb publication page



The Warburg effect is genetically determined in inherited pheochromocytomas.

Plos One
Favier, Judith J; Brière, Jean-Jacques JJ; Burnichon, Nelly N; Rivière, Julie J; Vescovo, Laure L; Benit, Paule P; Giscos-Douriez, Isabelle I; De Reyniès, Aurélien A; Bertherat, Jérôme J; Badoual, Cécile C; Tissier, Frédérique F; Amar, Laurence L; Libé, Rosella R; Plouin, Pierre-François PF; Jeunemaitre, Xavier X; Rustin, Pierre P; Gimenez-Roqueplo, Anne-Paule AP
Publication Date: 2009-09-18

Variant appearance in text: VHL: L178P
PubMed Link: 19763184
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic counseling in renal masses.

Advances In Urology
López-Guerrero, José Antonio JA; García-Casado, Zaida Z; Fernández-Serra, Antonio A; Rubio-Briones, José J
Publication Date: 2008

Variant appearance in text: VHL: Leu178Pro
PubMed Link: 19009041
Variant Present in the following documents:
  • Main text
  • AU2008-720840.pdf
View BVdb publication page