KIT c.1900C>T ;(p.R634W)

Variant ID: 4-55594197-C-T

NM_000222.2(KIT):c.1900C>T;(p.R634W)

This variant was identified in 38 publications

View GRCh38 version.




Publications:


Efficacy and clinicogenomic correlates of response to immune checkpoint inhibitors alone or with chemotherapy in non-small cell lung cancer.

Nature Communications
Hong, Lingzhi L; Aminu, Muhammad M; Li, Shenduo S; Lu, Xuetao X; Petranovic, Milena M; Saad, Maliazurina B MB; Chen, Pingjun P; Qin, Kang K; Varghese, Susan S; Rinsurongkawong, Waree W; Rinsurongkawong, Vadeerat V; Spelman, Amy A; Elamin, Yasir Y YY; Negrao, Marcelo V MV; Skoulidis, Ferdinandos F; Gay, Carl M CM; Cascone, Tina T; Gandhi, Saumil J SJ; Lin, Steven H SH; Lee, Percy P PP; Carter, Brett W BW; Wu, Carol C CC; Antonoff, Mara B MB; Sepesi, Boris B; Lewis, Jeff J; Gibbons, Don L DL; Vaporciyan, Ara A AA; Le, Xiuning X; Jack Lee, J J; Roy-Chowdhuri, Sinchita S; Routbort, Mark J MJ; Gainor, Justin F JF; Heymach, John V JV; Lou, Yanyan Y; Wu, Jia J; Zhang, Jianjun J; Vokes, Natalie I NI
Publication Date: 2023-02-08

Variant appearance in text: KIT: R634W
PubMed Link: 36755027
Variant Present in the following documents:
  • 41467_2023_36328_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Targeted Next-Generation Sequencing of Thymic Epithelial Tumours Revealed Pathogenic Variants in KIT, ERBB2, KRAS, and TP53 in 30% of Thymic Carcinomas.

Cancers
Szpechcinski, Adam A; Szolkowska, Malgorzata M; Winiarski, Sebastian S; Lechowicz, Urszula U; Wisniewski, Piotr P; Knetki-Wroblewska, Magdalena M
Publication Date: 2022-07-12

Variant appearance in text: KIT: R634W
PubMed Link: 35884448
Variant Present in the following documents:
  • Main text
  • cancers-14-03388.pdf
View BVdb publication page



Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
Publication Date: 2022-08

Variant appearance in text: KIT: R634W
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 3
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.

Genome Medicine
Wang, Meng M; Banik, Ishani I; Shain, A Hunter AH; Yeh, Iwei I; Bastian, Boris C BC
Publication Date: 2022-06-16

Variant appearance in text: KIT: R634W
PubMed Link: 35706047
Variant Present in the following documents:
  • 13073_2022_1068_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research
Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2022-05

Variant appearance in text: KIT: R634W
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s002.pdf
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: KIT: R634W
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Molecular Pathology and Targeted Therapies for Personalized Management of Central Nervous System Germinoma.

Journal Of Personalized Medicine
Ilcus, Cristina C; Silaghi, Horatiu H; Georgescu, Carmen Emanuela CE; Georgiu, Carmen C; Ciurea, Anca Ileana AI; Nicoara, Simona Delia SD; Silaghi, Cristina Alina CA
Publication Date: 2021-07-14

Variant appearance in text: KIT: 1900C>T; Arg634Trp
PubMed Link: 34357128
Variant Present in the following documents:
  • Main text
  • jpm-11-00661.pdf
View BVdb publication page



Plasma Circulating Tumor DNA Sequencing Predicts Minimal Residual Disease in Resectable Esophageal Squamous Cell Carcinoma.

Frontiers In Oncology
Liu, Tao T; Yao, Qianqian Q; Jin, Hai H
Publication Date: 2021

Variant appearance in text: KIT: R634W
PubMed Link: 34094900
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 6
View BVdb publication page



Molecular Background, Clinical Features and Management of Pediatric Mastocytosis: Status 2021.

International Journal Of Molecular Sciences
Lange, Magdalena M; Hartmann, Karin K; Carter, Melody C MC; Siebenhaar, Frank F; Alvarez-Twose, Ivan I; Torrado, Inés I; Brockow, Knut K; Renke, Joanna J; Irga-Jaworska, Ninela N; Plata-Nazar, Katarzyna K; Ługowska-Umer, Hanna H; Czarny, Justyna J; Belloni Fortina, Anna A; Caroppo, Francesca F; Nowicki, Roman J RJ; Nedoszytko, Bogusław B; Niedoszytko, Marek M; Valent, Peter P
Publication Date: 2021-03-04

Variant appearance in text: KIT: R634W
PubMed Link: 33806685
Variant Present in the following documents:
  • Main text
  • ijms-22-02586.pdf
View BVdb publication page



A comprehensive analysis of somatic alterations in Chinese ovarian cancer patients.

Scientific Reports
Zhang, Yingli Y; Shi, Xiaoliang X; Zhang, Jiejie J; Chen, Xi X; Zhang, Peng P; Liu, Angen A; Zhu, Tao T
Publication Date: 2021-01-11

Variant appearance in text: KIT: 1900C>T; R634W
PubMed Link: 33432021
Variant Present in the following documents:
  • 41598_2020_79694_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: KIT: 1900C>T; R634W
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Inherited causes of clonal haematopoiesis in 97,691 whole genomes.

Nature
Bick, Alexander G AG; Weinstock, Joshua S JS; Nandakumar, Satish K SK; Fulco, Charles P CP; Bao, Erik L EL; Zekavat, Seyedeh M SM; Szeto, Mindy D MD; Liao, Xiaotian X; Leventhal, Matthew J MJ; Nasser, Joseph J; Chang, Kyle K; Laurie, Cecelia C; Burugula, Bala Bharathi BB; Gibson, Christopher J CJ; Lin, Amy E AE; Taub, Margaret A MA; Aguet, Francois F; Ardlie, Kristin K; Mitchell, Braxton D BD; Barnes, Kathleen C KC; Moscati, Arden A; Fornage, Myriam M; Redline, Susan S; Psaty, Bruce M BM; Silverman, Edwin K EK; Weiss, Scott T ST; Palmer, Nicholette D ND; Vasan, Ramachandran S RS; Burchard, Esteban G EG; Kardia, Sharon L R SLR; He, Jiang J; Kaplan, Robert C RC; Smith, Nicholas L NL; Arnett, Donna K DK; Schwartz, David A DA; Correa, Adolfo A; de Andrade, Mariza M; Guo, Xiuqing X; Konkle, Barbara A BA; Custer, Brian B; Peralta, Juan M JM; Gui, Hongsheng H; Meyers, Deborah A DA; McGarvey, Stephen T ST; Chen, Ida Yii-Der IY; Shoemaker, M Benjamin MB; Peyser, Patricia A PA; Broome, Jai G JG; Gogarten, Stephanie M SM; Wang, Fei Fei FF; Wong, Quenna Q; Montasser, May E ME; Daya, Michelle M; Kenny, Eimear E EE; North, Kari E KE; Launer, Lenore J LJ; Cade, Brian E BE; Bis, Joshua C JC; Cho, Michael H MH; Lasky-Su, Jessica J; Bowden, Donald W DW; Cupples, L Adrienne LA; Mak, Angel C Y ACY; Becker, Lewis C LC; Smith, Jennifer A JA; Kelly, Tanika N TN; Aslibekyan, Stella S; Heckbert, Susan R SR; Tiwari, Hemant K HK; Yang, Ivana V IV; Heit, John A JA; Lubitz, Steven A SA; Johnsen, Jill M JM; Curran, Joanne E JE; Wenzel, Sally E SE; Weeks, Daniel E DE; Rao, Dabeeru C DC; Darbar, Dawood D; Moon, Jee-Young JY; Tracy, Russell P RP; Buth, Erin J EJ; Rafaels, Nicholas N; Loos, Ruth J F RJF; Durda, Peter P; Liu, Yongmei Y; Hou, Lifang L; Lee, Jiwon J; Kachroo, Priyadarshini P; Freedman, Barry I BI; Levy, Daniel D; Bielak, Lawrence F LF; Hixson, James E JE; Floyd, James S JS; Whitsel, Eric A EA; Ellinor, Patrick T PT; Irvin, Marguerite R MR; Fingerlin, Tasha E TE; Raffield, Laura M LM; Armasu, Sebastian M SM; Wheeler, Marsha M MM; Sabino, Ester C EC; Blangero, John J; Williams, L Keoki LK; Levy, Bruce D BD; Sheu, Wayne Huey-Herng WH; Roden, Dan M DM; Boerwinkle, Eric E; Manson, JoAnn E JE; Mathias, Rasika A RA; Desai, Pinkal P; Taylor, Kent D KD; Johnson, Andrew D AD; , ; Auer, Paul L PL; Kooperberg, Charles C; Laurie, Cathy C CC; Blackwell, Thomas W TW; Smith, Albert V AV; Zhao, Hongyu H; Lange, Ethan E; Lange, Leslie L; Rich, Stephen S SS; Rotter, Jerome I JI; Wilson, James G JG; Scheet, Paul P; Kitzman, Jacob O JO; Lander, Eric S ES; Engreitz, Jesse M JM; Ebert, Benjamin L BL; Reiner, Alexander P AP; Jaiswal, Siddhartha S; Abecasis, Gonçalo G; Sankaran, Vijay G VG; Kathiresan, Sekar S; Natarajan, Pradeep P
Publication Date: 2020-10

Variant appearance in text: KIT: R634W
PubMed Link: 33057201
Variant Present in the following documents:
  • NIHMS1609346-supplement-1609346_SuppTables.xlsx, sheet 4
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: KIT: R634W
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
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: KIT: R634W
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Two new KIT exon 13 mutations in one gastric gastrointestinal stromal tumor (GIST).

International Journal Of Clinical And Experimental Pathology
Huang, Ke K; Chen, Zhen Z; Zhang, Xiuming X
Publication Date: 2017

Variant appearance in text: KIT: R634W
PubMed Link: 31966753
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recent advances in the understanding and therapeutic management of mastocytosis.

F1000Research
Rossignol, Julien J; Polivka, Laura L; Maouche-Chrétien, Leila L; Frenzel, Laurent L; Dubreuil, Patrice P; Hermine, Olivier O
Publication Date: 2019

Variant appearance in text: KIT: R634W
PubMed Link: 31824655
Variant Present in the following documents:
  • Main text
  • f1000research-8-21341.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: KIT: R634W
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine
Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS
Publication Date: 2019-12

Variant appearance in text: KIT: 1900C>T; Arg634Trp; rs144369407
PubMed Link: 31768066
Variant Present in the following documents:
  • NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 4
  • NIHMS1541314-supplement-1541314_SourceDataExtFig8.xlsx, sheet 1
  • NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 3
  • NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 5
View BVdb publication page



Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Journal Of Translational Medicine
Manca, Antonella A; Paliogiannis, Panagiotis P; Colombino, Maria M; Casula, Milena M; Lissia, Amelia A; Botti, Gerardo G; Caracò, Corrado C; Ascierto, Paolo A PA; Sini, Maria Cristina MC; Palomba, Grazia G; Pisano, Marina M; , ; , ; Doneddu, Valentina V; Cossu, Antonio A; Palmieri, Giuseppe G; ,
Publication Date: 2019-08-28

Variant appearance in text: KIT: 1900C>T; Arg634Trp; rs144369407
PubMed Link: 31455347
Variant Present in the following documents:
  • 12967_2019_2039_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Lack of Response to Imatinib in Melanoma Carrying Rare KIT Mutation p.T632I.

Case Reports In Oncology
Orlova, Kristina V KV; Yanus, Grigory A GA; Aleksakhina, Svetlana N SN; Venina, Aigul R AR; Iyevleva, Aglaya G AG; Demidov, Lev V LV; Imyanitov, Evgeny N EN
Publication Date: 2019

Variant appearance in text: KIT: R634W
PubMed Link: 31043947
Variant Present in the following documents:
  • cro-0012-0109-s01.pdf
View BVdb publication page



Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology
Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR
Publication Date: 2019-04

Variant appearance in text: KIT: R634W
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: KIT: R634W
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 2
  • pone.0196434.s001.xlsx, sheet 1
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs144369407
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Mutation status among patients with sinonasal mucosal melanoma and its impact on survival.

British Journal Of Cancer
Amit, Moran M; Tam, Samantha S; Abdelmeguid, Ahmed S AS; Roberts, Dianna B DB; Takahashi, Yoko Y; Raza, Shaan M SM; Su, Shirley Y SY; Kupferman, Michael E ME; DeMonte, Franco F; Hanna, Ehab Y EY
Publication Date: 2017-06-06

Variant appearance in text: KIT: R634W
PubMed Link: 28494469
Variant Present in the following documents:
  • Main text
  • bjc2017125a.pdf
View BVdb publication page



A phase 2 trial of dasatinib in patients with locally advanced or stage IV mucosal, acral, or vulvovaginal melanoma: A trial of the ECOG-ACRIN Cancer Research Group (E2607).

Cancer
Kalinsky, Kevin K; Lee, Sandra S; Rubin, Krista M KM; Lawrence, Donald P DP; Iafrarte, Anthony J AJ; Borger, Darell R DR; Margolin, Kim A KA; Leitao, Mario M MM; Tarhini, Ahmad A AA; Koon, Henry B HB; Pecora, Andrew L AL; Jaslowski, Anthony J AJ; Cohen, Gary I GI; Kuzel, Timothy M TM; Lao, Christopher D CD; Kirkwood, John M JM
Publication Date: 2017-07-15

Variant appearance in text: KIT: R634W
PubMed Link: 28334439
Variant Present in the following documents:
  • Main text
View BVdb publication page



Efficacy and safety of nilotinib in patients with KIT-mutated metastatic or inoperable melanoma: final results from the global, single-arm, phase II TEAM trial.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Guo, J J; Carvajal, R D RD; Dummer, R R; Hauschild, A A; Daud, A A; Bastian, B C BC; Markovic, S N SN; Queirolo, P P; Arance, A A; Berking, C C; Camargo, V V; Herchenhorn, D D; Petrella, T M TM; Schadendorf, D D; Sharfman, W W; Testori, A A; Novick, S S; Hertle, S S; Nourry, C C; Chen, Q Q; Hodi, F S FS
Publication Date: 2017-06-01

Variant appearance in text: KIT: R634W
PubMed Link: 28327988
Variant Present in the following documents:
  • Main text
  • mdx079.pdf
View BVdb publication page



Germline mutations of KIT in gastrointestinal stromal tumor (GIST) and mastocytosis.

Cell & Bioscience
Ke, Hengning H; Kazi, Julhash U JU; Zhao, Hui H; Sun, Jianmin J
Publication Date: 2016

Variant appearance in text: KIT: R634W
PubMed Link: 27777718
Variant Present in the following documents:
  • Main text
  • 13578_2016_Article_120.pdf
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: KIT: R634W
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Identification of Driving ALK Fusion Genes and Genomic Landscape of Medullary Thyroid Cancer.

Plos Genetics
Ji, Jun Ho JH; Oh, Young Lyun YL; Hong, Mineui M; Yun, Jae Won JW; Lee, Hyun-Woo HW; Kim, DeokGeun D; Ji, Yongick Y; Kim, Duk-Hwan DH; Park, Woong-Yang WY; Shin, Hyun-Tae HT; Kim, Kyoung-Mee KM; Ahn, Myung-Ju MJ; Park, Keunchil K; Sun, Jong-Mu JM
Publication Date: 2015-08

Variant appearance in text: KIT: R634W; rs144369407
PubMed Link: 26295973
Variant Present in the following documents:
  • pgen.1005467.s002.xls, sheet 1
View BVdb publication page



Mastocytosis: a mutated KIT receptor induced myeloproliferative disorder.

Oncotarget
Chatterjee, Anindya A; Ghosh, Joydeep J; Kapur, Reuben R
Publication Date: 2015-07-30

Variant appearance in text: KIT: R634W
PubMed Link: 26158763
Variant Present in the following documents:
  • Main text
  • oncotarget-06-18250.pdf
View BVdb publication page



KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis.

Leukemia
Arock, M M; Sotlar, K K; Akin, C C; Broesby-Olsen, S S; Hoermann, G G; Escribano, L L; Kristensen, T K TK; Kluin-Nelemans, H C HC; Hermine, O O; Dubreuil, P P; Sperr, W R WR; Hartmann, K K; Gotlib, J J; Cross, N C P NC; Haferlach, T T; Garcia-Montero, A A; Orfao, A A; Schwaab, J J; Triggiani, M M; Horny, H-P HP; Metcalfe, D D DD; Reiter, A A; Valent, P P
Publication Date: 2015-06

Variant appearance in text: KIT: R634W
PubMed Link: 25650093
Variant Present in the following documents:
  • Main text
View BVdb publication page



Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology
Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B
Publication Date: 2014-10-28

Variant appearance in text: KIT: R634W
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The FBXO4 tumor suppressor functions as a barrier to BRAFV600E-dependent metastatic melanoma.

Molecular And Cellular Biology
Lee, Eric K EK; Lian, Zhaorui Z; D'Andrea, Kurt K; Letrero, Richard R; Sheng, WeiQi W; Liu, Shujing S; Diehl, J Nathaniel JN; Pytel, Dariusz D; Barbash, Olena O; Schuchter, Lynn L; Amaravaradi, Ravi R; Xu, Xiaowei X; Herlyn, Meenhard M; Nathanson, Katherine L KL; Diehl, J Alan JA
Publication Date: 2013-11

Variant appearance in text: KIT: R634W
PubMed Link: 24019069
Variant Present in the following documents:
  • Main text
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: KIT: R634W
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Autophagy limits the cytotoxic effects of the AKT inhibitor AZ7328 in human bladder cancer cells.

Cancer Biology & Therapy
Dickstein, Rian J RJ; Nitti, Giovanni G; Dinney, Colin P CP; Davies, Barry R BR; Kamat, Ashish M AM; McConkey, David J DJ
Publication Date: 2012-11

Variant appearance in text: KIT: R634W
PubMed Link: 22895070
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fresh surgical specimens yield breast stem/progenitor cells and reveal their oncogenic abnormalities.

Annals Of Surgical Oncology
Pommier, Suellen J SJ; Hernandez, Ariel A; Han, Esther E; Massimino, Kristen K; Muller, Patrick P; Diggs, Brian B; Chamberlain, Erin E; Murphy, Jennifer J; Hansen, Juliana J; Naik, Arpana A; Vetto, John J; Pommier, Rodney F RF
Publication Date: 2012-02

Variant appearance in text: KIT: R634W
PubMed Link: 21748247
Variant Present in the following documents:
  • 10434_2011_1892_MOESM2_ESM.pdf
View BVdb publication page



Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates.

Molecular Cancer Therapeutics
Woodman, Scott E SE; Trent, Jonathan C JC; Stemke-Hale, Katherine K; Lazar, Alexander J AJ; Pricl, Sabrina S; Pavan, Giovanni M GM; Fermeglia, Maurizio M; Gopal, Y N Vashisht YN; Yang, Dan D; Podoloff, Donald A DA; Ivan, Doina D; Kim, Kevin B KB; Papadopoulos, Nicholas N; Hwu, Patrick P; Mills, Gordon B GB; Davies, Michael A MA
Publication Date: 2009-08

Variant appearance in text: KIT: R634W
PubMed Link: 19671763
Variant Present in the following documents:
  • Main text
View BVdb publication page