KIT c.2446G>A ;(p.D816N)

Variant ID: 4-55599320-G-A

NM_000222.2(KIT):c.2446G>A;(p.D816N)

This variant was identified in 24 publications

View GRCh38 version.




Publications:


Efficacy and safety of ripretinib in patients with KIT-altered metastatic melanoma.

Esmo Open
Janku, F F; Bauer, S S; Shoumariyeh, K K; Jones, R L RL; Spreafico, A A; Jennings, J J; Psoinos, C C; Meade, J J; Ruiz-Soto, R R; Chi, P P
Publication Date: 2022-08

Variant appearance in text: KIT: D816N
PubMed Link: 35753087
Variant Present in the following documents:
  • Main text
  • main.pdf
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: D816N
PubMed Link: 35706047
Variant Present in the following documents:
  • 13073_2022_1068_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: KIT: 2446G>A; Asp816Asn
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Mutated KIT Tyrosine Kinase as a Novel Molecular Target in Acute Myeloid Leukemia.

International Journal Of Molecular Sciences
Katagiri, Seiichiro S; Chi, SungGi S; Minami, Yosuke Y; Fukushima, Kentaro K; Shibayama, Hirohiko H; Hosono, Naoko N; Yamauchi, Takahiro T; Morishita, Takanobu T; Kondo, Takeshi T; Yanada, Masamitsu M; Yamamoto, Kazuhito K; Kuroda, Junya J; Usuki, Kensuke K; Akahane, Daigo D; Gotoh, Akihiko A
Publication Date: 2022-04-23

Variant appearance in text: CD117: D816N
PubMed Link: 35563085
Variant Present in the following documents:
  • ijms-23-04694.pdf
View BVdb publication page



Tuberous sclerosis complex: a complex case.

Cold Spring Harbor Molecular Case Studies
Powell, Ryan M RM; Pattison, Sharon S; Moravec, Jiri C JC; Bhat, Basharat B; Guirguis, Nada N; Markie, David D; Jones, Greg T GT; Copedo, Jason J; Print, Cristin G CG; Morison, Ian M IM; Gavryushkin, Alex A; Gray, Bronwyn B; Wyeth, Lisa J LJ; Eccles, Mike R MR; Macaulay, Erin C EC
Publication Date: 2022-04

Variant appearance in text: KIT: 2446G>A; Asp816Asn
PubMed Link: 35483879
Variant Present in the following documents:
  • Main text
  • MCS006182Pow.pdf
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: D816N
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: D816N
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: KIT: 2446G>A; D816N
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports
Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O
Publication Date: 2020-10-13

Variant appearance in text: rs121913506
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



KIT and Melanoma: Biological Insights and Clinical Implications.

Yonsei Medical Journal
Pham, Duc Daniel M DDM; Guhan, Samantha S; Tsao, Hensin H
Publication Date: 2020-07

Variant appearance in text: KIT: D816N
PubMed Link: 32608199
Variant Present in the following documents:
  • Main text
  • ymj-61-562.pdf
View BVdb publication page



The duality of human oncoproteins: drivers of cancer and congenital disorders.

Nature Reviews. Cancer
Castel, Pau P; Rauen, Katherine A KA; McCormick, Frank F
Publication Date: 2020-07

Variant appearance in text: KIT: D816N
PubMed Link: 32341551
Variant Present in the following documents:
  • Main text
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: D816N
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 11
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: D816N
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Simultaneous identification of clinically relevant single nucleotide variants, copy number alterations and gene fusions in solid tumors by targeted next-generation sequencing.

Oncotarget
Oliveira, Duarte Mendes DM; Mirante, Teresa T; Mignogna, Chiara C; Scrima, Marianna M; Migliozzi, Simona S; Rocco, Gaetano G; Franco, Renato R; Corcione, Francesco F; Viglietto, Giuseppe G; Malanga, Donatella D; Rizzuto, Antonia A
Publication Date: 2018-04-27

Variant appearance in text: KIT: D816N
PubMed Link: 29854313
Variant Present in the following documents:
  • Main text
  • oncotarget-09-22749.pdf
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: D816N
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page



Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.

Genome Research
Brammeld, Jonathan S JS; Petljak, Mia M; Martincorena, Inigo I; Williams, Steven P SP; Alonso, Luz Garcia LG; Dalmases, Alba A; Bellosillo, Beatriz B; Robles-Espinoza, Carla Daniela CD; Price, Stacey S; Barthorpe, Syd S; Tarpey, Patrick P; Alifrangis, Constantine C; Bignell, Graham G; Vidal, Joana J; Young, Jamie J; Stebbings, Lucy L; Beal, Kathryn K; Stratton, Michael R MR; Saez-Rodriguez, Julio J; Garnett, Mathew M; Montagut, Clara C; Iorio, Francesco F; McDermott, Ultan U
Publication Date: 2017-04

Variant appearance in text: KIT: 2446G>A; D816N
PubMed Link: 28179366
Variant Present in the following documents:
  • supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1
View BVdb publication page



Receptor tyrosine kinase (c-Kit) inhibitors: a potential therapeutic target in cancer cells.

Drug Design, Development And Therapy
Abbaspour Babaei, Maryam M; Kamalidehghan, Behnam B; Saleem, Mohammad M; Huri, Hasniza Zaman HZ; Ahmadipour, Fatemeh F
Publication Date: 2016

Variant appearance in text: KIT: D816N
PubMed Link: 27536065
Variant Present in the following documents:
  • Main text
  • dddt-10-2443.pdf
View BVdb publication page



Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications
Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F
Publication Date: 2016-08-18

Variant appearance in text: rs121913506
PubMed Link: 27534895
Variant Present in the following documents:
  • ncomms12475-s2.xlsx, sheet 1
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: KIT: D816N; rs121913506
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



KIT mutations in primary mediastinal B-cell lymphoma.

Blood Cancer Journal
Nagel, P D PD; Stenzinger, A A; Feld, F M FM; Herrmann, M D MD; Brüderlein, S S; Barth, T F E TF; Marienfeld, R R; Endris, V V; Weichert, W W; Debatin, K-M KM; Westhoff, M-A MA; Lessel, D D; Möller, P P; Lennerz, J K JK
Publication Date: 2014-08-22

Variant appearance in text: KIT: D816N
PubMed Link: 25148223
Variant Present in the following documents:
  • Main text
  • bcj201461x2.xls, sheet 1
View BVdb publication page



Hotspot mutations in KIT receptor differentially modulate its allosterically coupled conformational dynamics: impact on activation and drug sensitivity.

Plos Computational Biology
Chauvot de Beauchêne, Isaure I; Allain, Ariane A; Panel, Nicolas N; Laine, Elodie E; Trouvé, Alain A; Dubreuil, Patrice P; Tchertanov, Luba L
Publication Date: 2014-07

Variant appearance in text: KIT: D816N
PubMed Link: 25079768
Variant Present in the following documents:
  • Main text
  • pcbi.1003749.pdf
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: D816N
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 1
View BVdb publication page



The energy landscape analysis of cancer mutations in protein kinases.

Plos One
Dixit, Anshuman A; Verkhivker, Gennady M GM
Publication Date: 2011

Variant appearance in text: KIT: D816N
PubMed Link: 21998754
Variant Present in the following documents:
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: KIT: D816N
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page