KIT c.2447A>T ;(p.D816V)

Variant ID: 4-55599321-A-T

NM_000222.2(KIT):c.2447A>T;(p.D816V)

This variant was identified in 1066 publications

View GRCh38 version.




Publications:


Blood tumor mutational burden and dynamic changes in circulating tumor DNA predict response to pembrolizumab treatment in advanced non-small cell lung cancer.

Translational Lung Cancer Research
Stensgaard, Simone S; Thomsen, Astrid A; Helstrup, Sofie S; Meldgaard, Peter P; Sorensen, Boe S BS
Publication Date: 2023-05-31

Variant appearance in text: KIT: 2447A>T; Asp816Val
PubMed Link: 37323168
Variant Present in the following documents:
  • tlcr-12-05-971-supplementary.pdf
View BVdb publication page



Characterization of p38α autophosphorylation inhibitors that target the non-canonical activation pathway.

Nature Communications
González, Lorena L; Díaz, Lucía L; Pous, Joan J; Baginski, Blazej B; Duran-Corbera, Anna A; Scarpa, Margherita M; Brun-Heath, Isabelle I; Igea, Ana A; Martin-Malpartida, Pau P; Ruiz, Lidia L; Pallara, Chiara C; Esguerra, Mauricio M; Colizzi, Francesco F; Mayor-Ruiz, Cristina C; Biondi, Ricardo M RM; Soliva, Robert R; Macias, Maria J MJ; Orozco, Modesto M; Nebreda, Angel R AR
Publication Date: 2023-06-12

Variant appearance in text: KIT: D816V
PubMed Link: 37308482
Variant Present in the following documents:
  • 41467_2023_39051_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page



From a drug repositioning to a structure-based drug design approach to tackle acute lymphoblastic leukemia.

Nature Communications
Saez-Ayala, Magali M; Hoffer, Laurent L; Abel, Sébastien S; Ben Yaala, Khaoula K; Sicard, Benoit B; Andrieu, Guillaume P GP; Latiri, Mehdi M; Davison, Emma K EK; Ciufolini, Marco A MA; Brémond, Paul P; Rebuffet, Etienne E; Roche, Philippe P; Derviaux, Carine C; Voisset, Edwige E; Montersino, Camille C; Castellano, Remy R; Collette, Yves Y; Asnafi, Vahid V; Betzi, Stéphane S; Dubreuil, Patrice P; Combes, Sébastien S; Morelli, Xavier X
Publication Date: 2023-05-29

Variant appearance in text: KIT: D816V
PubMed Link: 37248212
Variant Present in the following documents:
  • 41467_2023_38668_MOESM2_ESM.pdf
  • 41467_2023_Article_38668.pdf
  • 41467_2023_38668_MOESM1_ESM.pdf
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The Curious Case of Elevated Tryptase: Workup and Differential in Family of Four.

Cureus
Cochran, Audra L AL; Coop, Christopher C; Neaves, Brittanie I BI; Wood, Stuart T ST
Publication Date: 2023-04

Variant appearance in text: KIT: D816V
PubMed Link: 37228529
Variant Present in the following documents:
  • Main text
  • cureus-0015-00000038065.pdf
View BVdb publication page



Advances in Allogeneic Hematopoietic Stem Cell Transplantation for Acute Leukemia.

Blood Cell Therapy
Nannya, Yasuhito Y; Viswabandya, Auro A; Lu, Peihua P
Publication Date: 2022-12-23

Variant appearance in text: KIT: D816V
PubMed Link: 37220610
Variant Present in the following documents:
  • 2432-7026-5-S-S0025.pdf
View BVdb publication page



French guidelines for the etiological workup of eosinophilia and the management of hypereosinophilic syndromes.

Orphanet Journal Of Rare Diseases
Groh, Matthieu M; Rohmer, Julien J; Etienne, Nicolas N; Abou Chahla, Wadih W; Baudet, Antoine A; Chan Hew Wai, Aurélie A; Chenivesse, Cécile C; Clisson Rusek, Irena I; Cottin, Vincent V; Decamp, Matthieu M; De Groote, Pascal P; Delahousse, Fanny F; Duployez, Nicolas N; Faguer, Stanislas S; Gottrand, Frédéric F; Huang, Florent F; Leblanc, Thierry T; Magnan, Antoine A; Martin, Thierry T; Mortuaire, Geoffrey G; Néel, Antoine A; Paris, Luc L; Petit, Arnaud A; Rossignol, Julien J; Schleinitz, Nicolas N; Soret-Dulphy, Juliette J; Staumont-Salle, Delphine D; Terrier, Benjamin B; Terriou, Louis L; Viallard, Jean-François JF; Lefèvre, Guillaume G; Kahn, Jean-Emmanuel JE
Publication Date: 2023-04-30

Variant appearance in text: KIT: D816V
PubMed Link: 37122022
Variant Present in the following documents:
  • Main text
  • 13023_2023_Article_2696.pdf
View BVdb publication page



Secretory and Membrane-Associated Biomarkers of Mast Cell Activation and Proliferation.

International Journal Of Molecular Sciences
Parente, Roberta R; Giudice, Valentina V; Cardamone, Chiara C; Serio, Bianca B; Selleri, Carmine C; Triggiani, Massimo M
Publication Date: 2023-04-11

Variant appearance in text: KIT: Asp816Val
PubMed Link: 37108232
Variant Present in the following documents:
  • Main text
  • ijms-24-07071.pdf
View BVdb publication page



Recent advances in diagnosis and therapy in systemic mastocytosis.

Blood Research
Lee, Hyun Jung HJ
Publication Date: 2023-04-30

Variant appearance in text: KIT: D816V
PubMed Link: 37105564
Variant Present in the following documents:
  • Main text
  • br-58-s1-s96.pdf
View BVdb publication page



Dynamic ctDNA Mutational Complexity in Patients with Melanoma Receiving Immunotherapy.

Molecular Diagnosis & Therapy
Fitzgerald, Sandra S; Blenkiron, Cherie C; Stephens, Rosalie R; Mathy, Jon A JA; Somers-Edgar, Tiffany T; Rolfe, Gill G; Martin, Richard R; Jackson, Christopher C; Eccles, Michael M; Robb, Tamsin T; Rodger, Euan E; Lawrence, Ben B; Guilford, Parry P; Lasham, Annette A; Print, Cristin G CG
Publication Date: 2023-04-26

Variant appearance in text: KIT: 2447A>T; D816V
PubMed Link: 37099071
Variant Present in the following documents:
  • 40291_2023_651_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Lung-specific MCEMP1 functions as an adaptor for KIT to promote SCF-mediated mast cell proliferation.

Nature Communications
Choi, Youn Jung YJ; Yoo, Ji-Seung JS; Jung, Kyle K; Rice, Logan L; Kim, Dokyun D; Zlojutro, Violetta V; Frimel, Matthew M; Madden, Evan E; Choi, Un Yung UY; Foo, Suan-Sin SS; Choi, Younho Y; Jiang, Zhongyi Z; Johnson, Holly H; Kwak, Mi-Jeong MJ; Kang, Seokmin S; Hong, Brian B; Seo, Gil Ju GJ; Kim, Stephanie S; Lee, Shin-Ae SA; Amini-Bavil-Olyaee, Samad S; Maazi, Hadi H; Akbari, Omid O; Asosingh, Kewal K; Jung, Jae U JU
Publication Date: 2023-04-11

Variant appearance in text: KIT: D816V
PubMed Link: 37041174
Variant Present in the following documents:
  • Main text
  • 41467_2023_Article_37873.pdf
View BVdb publication page



Discovery of an In Vivo Chemical Probe for BCL6 Inhibition by Optimization of Tricyclic Quinolinones.

Journal Of Medicinal Chemistry
Harnden, Alice C AC; Davis, Owen A OA; Box, Gary M GM; Hayes, Angela A; Johnson, Louise D LD; Henley, Alan T AT; de Haven Brandon, Alexis K AK; Valenti, Melanie M; Cheung, Kwai-Ming J KJ; Brennan, Alfie A; Huckvale, Rosemary R; Pierrat, Olivier A OA; Talbot, Rachel R; Bright, Michael D MD; Akpinar, Hafize Aysin HA; Miller, Daniel S J DSJ; Tarantino, Dalia D; Gowan, Sharon S; de Klerk, Selby S; McAndrew, Peter Craig PC; Le Bihan, Yann-Vaï YV; Meniconi, Mirco M; Burke, Rosemary R; Kirkin, Vladimir V; van Montfort, Rob L M RLM; Raynaud, Florence I FI; Rossanese, Olivia W OW; Bellenie, Benjamin R BR; Hoelder, Swen S
Publication Date: 2023-04-07

Variant appearance in text: KIT: D816V
PubMed Link: 37026591
Variant Present in the following documents:
  • jm3c00155_si_002.xlsx, sheet 2
View BVdb publication page



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: KIT: D816V
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 4
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 2
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 3
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Somatic mutation detection and KRAS amplification in testicular germ cell tumors.

Frontiers In Oncology
Cabral, Eduardo R M ERM; Pacanhella, Marilia F MF; Lengert, Andre V H AVH; Dos Reis, Mariana B MB; Leal, Leticia F LF; de Lima, Marcos A MA; da Silva, Aline L V ALV; Pinto, Icaro A IA; Reis, Rui M RM; Pinto, Mariana T MT; Cárcano, Flavio M FM
Publication Date: 2023

Variant appearance in text: KIT: D816V
PubMed Link: 37007070
Variant Present in the following documents:
  • Main text
  • fonc-13-1133363.pdf
View BVdb publication page



Deep genomic characterization highlights complexities and prognostic markers of pediatric acute myeloid leukemia.

Communications Biology
Cheng, Chi-Keung CK; Yung, Yuk-Lin YL; Chan, Hoi-Yun HY; Leung, Kam-Tong KT; Chan, Kathy Y Y KYY; Leung, Alex W K AWK; Cheng, Frankie W T FWT; Li, Chi-Kong CK; Wan, Thomas S K TSK; Luo, Xi X; Pitts, Herbert-Augustus HA; Cheung, Joyce S JS; Chan, Natalie P H NPH; Ng, Margaret H L MHL
Publication Date: 2023-03-31

Variant appearance in text: KIT: 2447A>T; D816V; rs121913507
PubMed Link: 37002311
Variant Present in the following documents:
  • 42003_2023_4732_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Modulating fast skeletal muscle contraction protects skeletal muscle in animal models of Duchenne muscular dystrophy.

The Journal Of Clinical Investigation
Russell, Alan J AJ; DuVall, Mike M; Barthel, Benjamin B; Qian, Ying Y; Peter, Angela K AK; Newell-Stamper, Breanne L BL; Hunt, Kevin K; Lehman, Sarah J SJ; Madden, Molly R MR; Schlachter, Stephen T ST; Robertson, Benjamin D BD; Van Deusen, Ashleigh A; Rodriguez, Hector M HM; Vera, Carlos D CD; Su, Yu Y; Claflin, Dennis R DR; Brooks, Susan V SV; Nghiem, Peter P PP; Rutledge, Alexis A; Juehne, Twlya I TI; Yu, Jinsheng J; Barton, Elisabeth R ER; Luo, Yangyi E YE; Patsalos, Andreas A; Nagy, Laszlo L; Sweeney, H Lee HL; Leinwand, Leslie A LA; Koch, Kevin K
Publication Date: 2023-03-30

Variant appearance in text: KIT: D816V
PubMed Link: 36995778
Variant Present in the following documents:
  • jci-133-153837-s035.xlsx, sheet 1
View BVdb publication page



Neuropsychiatric Adverse Drug Reactions with Tyrosine Kinase Inhibitors in Gastrointestinal Stromal Tumors: An Analysis from the European Spontaneous Adverse Event Reporting System.

Cancers
Barbieri, Maria Antonietta MA; Sorbara, Emanuela Elisa EE; Russo, Giulia G; Cicala, Giuseppe G; Franchina, Tindara T; Santarpia, Mariacarmela M; Silvestris, Nicola N; Spina, Edoardo E
Publication Date: 2023-03-20

Variant appearance in text: KIT: D816V
PubMed Link: 36980737
Variant Present in the following documents:
  • Main text
  • cancers-15-01851.pdf
View BVdb publication page



Sodium butyrate supresses malignant human mast cell proliferation, downregulates expression of KIT and promotes differentiation.

Frontiers In Allergy
MacDonald, Clayton A CA; Qian, Hui H; Pundir, Priyanka P; Kulka, Marianna M
Publication Date: 2023

Variant appearance in text: KIT: D816V
PubMed Link: 36970068
Variant Present in the following documents:
  • Main text
  • falgy-04-1109717.pdf
View BVdb publication page



Psychometric evaluation of the Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF©) and determination of a threshold score for moderate symptoms.

Orphanet Journal Of Rare Diseases
Shields, Alan L AL; Taylor, Fiona F; Lamoureux, Roger E RE; Padilla, Brad B; Severson, Kas K; Green, Tanya T; Boral, Anthony L AL; Akin, Cem C; Siebenhaar, Frank F; Mar, Brenton B
Publication Date: 2023-03-25

Variant appearance in text: KIT: D816V
PubMed Link: 36964624
Variant Present in the following documents:
  • Main text
  • 13023_2023_Article_2661.pdf
View BVdb publication page



Deep Annotation of Donated Chemical Probes (DCP) in Organotypic Human Liver Cultures and Patient-Derived Organoids from Tumor and Normal Colorectum.

Acs Chemical Biology
Tredup, Claudia C; Ndreshkjana, Benardina B; Schneider, Natalie S NS; Tjaden, Amelie A; Kemas, Aurino M AM; Youhanna, Sonia S; Lauschke, Volker M VM; Berger, Benedict-Tilman BT; Krämer, Andreas A; Berger, Lena M LM; Röhm, Sandra S; Knapp, Stefan S; Farin, Henner F HF; Müller, Susanne S
Publication Date: 2023-03-21

Variant appearance in text: KIT: D816V
PubMed Link: 36944371
Variant Present in the following documents:
  • cb2c00877_si_004.xlsx, sheet 1
View BVdb publication page



Preclinical development and evaluation of nanobody-based CD70-specific CAR T cells for the treatment of acute myeloid leukemia.

Cancer Immunology, Immunotherapy : Cii
Cheng, Jiali J; Ge, Tong T; Zhu, Xiaojian X; Wang, Jue J; Zeng, Yuhao Y; Mu, Wei W; Cai, Haodong H; Dai, Zhenyu Z; Jin, Jin J; Yang, Yongkun Y; Hu, Guang G; Mao, Xia X; Zhou, Jianfeng J; Zhu, Li L; Huang, Liang L
Publication Date: 2023-03-17

Variant appearance in text: KIT: D816V
PubMed Link: 36932256
Variant Present in the following documents:
  • 262_2023_3422_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Engraftment in NSGSCF mice correlates with the WHO category and prognosis in systemic mastocytosis.

Leukemia
Willmann, Michael M; Peter, Barbara B; Slavnitsch, Katharina K; Berger, Daniela D; Witzeneder, Nadine N; Stefanzl, Gabriele G; Eisenwort, Gregor G; Ivanov, Daniel D; Sadovnik, Irina I; Hadzijusufovic, Emir E; Greiner, Georg G; Bernthaler, Tina T; Hoermann, Gregor G; Dahlhoff, Maik M; Rülicke, Thomas T; Valent, Peter P
Publication Date: 2023-03-14

Variant appearance in text: KIT: D816V
PubMed Link: 36918646
Variant Present in the following documents:
  • Main text
  • 41375_2023_Article_1871.pdf
View BVdb publication page



Molecular Mechanisms of Gastrointestinal Stromal Tumors and Their Impact on Systemic Therapy Decision.

Cancers
Unk, Mojca M; Jezeršek Novaković, Barbara B; Novaković, Srdjan S
Publication Date: 2023-02-27

Variant appearance in text: KIT: D816V
PubMed Link: 36900287
Variant Present in the following documents:
  • Main text
  • cancers-15-01498.pdf
View BVdb publication page



Investigation of the anti-tumor mechanism of tirabrutinib, a highly selective Bruton's tyrosine kinase inhibitor, by phosphoproteomics and transcriptomics.

Plos One
Kozaki, Ryohei R; Yasuhiro, Tomoko T; Kato, Hikaru H; Murai, Jun J; Hotta, Shingo S; Ariza, Yuko Y; Sakai, Shunsuke S; Fujikawa, Ryu R; Yoshida, Takao T
Publication Date: 2023

Variant appearance in text: KIT: D816V
PubMed Link: 36897912
Variant Present in the following documents:
  • pone.0282166.s009.xlsx, sheet 1
View BVdb publication page



SETD2 non genomic loss of function in advanced systemic mastocytosis is mediated by an Aurora kinase A/MDM2 axis and can be therapeutically targeted.

Biomarker Research
Mancini, Manuela M; Monaldi, Cecilia C; De Santis, Sara S; Papayannidis, Cristina C; Rondoni, Michela M; Sartor, Chiara C; Bruno, Samantha S; Pagano, Livio L; Criscuolo, Marianna M; Zanotti, Roberta R; Bonifacio, Massimiliano M; Tosi, Patrizia P; Arock, Michel M; Valent, Peter P; Cavo, Michele M; Soverini, Simona S
Publication Date: 2023-03-10

Variant appearance in text: KIT: D816V
PubMed Link: 36894973
Variant Present in the following documents:
  • Main text
  • 40364_2023_Article_468.pdf
View BVdb publication page



Pediatric Cutaneous Mastocytosis With Motor and Intellectual Delay.

Cureus
Watanabe, Yusuke Y; Morichi, Shinichiro S; Takamatsu, Tomoko T; Ito, Tomonobu T; Yamanaka, Gaku G
Publication Date: 2023-02

Variant appearance in text: KIT: D816V
PubMed Link: 36874330
Variant Present in the following documents:
  • Main text
  • cureus-0015-00000034536.pdf
View BVdb publication page



Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea.

Human Genomics
Yun, Jiwon J; Song, Hyojin H; Kim, Sung-Min SM; Kim, Soonok S; Kwon, Seok Ryun SR; Lee, Young Eun YE; Jeong, Dajeong D; Park, Jae Hyeon JH; Kwon, Sunghoon S; Yun, Hongseok H; Lee, Dong Soon DS
Publication Date: 2023-02-23

Variant appearance in text: KIT: 2447A>T; Asp816Val
PubMed Link: 36814285
Variant Present in the following documents:
  • 40246_2023_458_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: D816V
PubMed Link: 36755027
Variant Present in the following documents:
  • 41467_2023_36328_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Mast Cell Sarcoma of Small Intestine, Early Diagnosis, and Good Prognosis: An Extremely Rare Case Report and Review of the Literature.

Gastrointestinal Tumors
Geramizadeh, Bita B; Nabavizadeh, Sara S; Rezvani, Alireza A; Shamsolvaezin, Nadereh N; Zahedinassab, Alireza A; Khodadadi, Neda N; Iranpour, Pouya P
Publication Date: 2023

Variant appearance in text: KIT: D816V
PubMed Link: 36742415
Variant Present in the following documents:
  • Main text
  • gat-2023-0010-0001-528887.pdf
View BVdb publication page



Somatic genetic alterations predict haematological progression in GATA2 deficiency.

Haematologica
Largeaud, Laetitia L; Collin, Matthew M; Monselet, Nils N; Vergez, Francois F; Fregona, Vincent V; Larcher, Lise L; Hirsch, Pierre P; Duployez, Nicolas N; Bidet, Audrey A; Luquet, Isabelle I; Bustamante, Jacinta J; Dufrechou, Stephanie S; Prade, Nais N; Nolla, Marie M; Hamelle, Camille C; Tavitian, Suzanne S; Habib, Christophe C; Meynier, Mateo M; Bellanne-Chantelot, Christine C; Donadieu, Jean J; De Fontbrune, Flore Sicre FS; Fieschi, Claire C; Ferster, Alina A; Delhommeau, Francois F; Delabesse, Eric E; Pasquet, Marlene M
Publication Date: 2023-02-02

Variant appearance in text: KIT: 2447A>T; Asp816Val
PubMed Link: 36727400
Variant Present in the following documents:
  • 2022_282250_LARGEAUD_TABS4_SUPPL.xlsx, sheet 1
View BVdb publication page



Eosinophilia attention, diagnosis, treatment, and awareness in physicians: a cross-sectional survey.

Therapeutic Advances In Chronic Disease
Chen, Bigui B; Fu, Yu Y; Wang, Zhufeng Z; Rong, Qiuping Q; Zhang, Qingling Q; Xie, Jiaxing J; Kong, Xuetao X; Jiang, Mei M
Publication Date: 2023

Variant appearance in text: KIT: D816V
PubMed Link: 36712467
Variant Present in the following documents:
  • 10.1177_20406223221146938.pdf
View BVdb publication page