KIT c.2394C>A ;(p.I798=)

Variant ID: 4-55599268-C-A

NM_000222.2(KIT):c.2394C>A;(p.I798=)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Detection and targeting of splicing deregulation in pediatric acute myeloid leukemia stem cells.

Cell Reports. Medicine
van der Werf, Inge I; Mondala, Phoebe K PK; Steel, S Kathleen SK; Balaian, Larisa L; Ladel, Luisa L; Mason, Cayla N CN; Diep, Raymond H RH; Pham, Jessica J; Cloos, Jacqueline J; Kaspers, Gertjan J L GJL; Chan, Warren C WC; Mark, Adam A; La Clair, James J JJ; Wentworth, Peggy P; Fisch, Kathleen M KM; Crews, Leslie A LA; Whisenant, Thomas C TC; Burkart, Michael D MD; Donohoe, Mary E ME; Jamieson, Catriona H M CHM
Publication Date: 2023-03-02

Variant appearance in text: KIT: I798=
PubMed Link: 36889320
Variant Present in the following documents:
  • mmc4.pdf
  • main.pdf
View BVdb publication page



Identification and in silico analysis of noval alteration Arg420Gly in KIT proto oncogene among acute myeloid leukemia patients.

Scientific Reports
Akram, Afia Muhammad AM; Hassan, Mubashir M; Chaudhary, Asma A; Hayat, Sikandar S; Ali, Qurban Q; Hussain, Taha T; Zafar, Amjad A; Javed, Muhammad Arshad MA
Publication Date: 2022-11-10

Variant appearance in text: KIT: Ile798Ile
PubMed Link: 36357474
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_23934.pdf
View BVdb publication page



Outcomes in oncogenic-addicted advanced NSCLC patients with actionable mutations identified by liquid biopsy genomic profiling using a tagged amplicon-based NGS assay.

Plos One
Remon, Jordi J; Swalduz, Aurelie A; Planchard, David D; Ortiz-Cuaran, Sandra S; Mezquita, Laura L; Lacroix, Ludovic L; Jovelet, Cecile C; Rouleau, Etienne E; Leonce, Camille C; De Kievit, Frank F; Morris, Clive C; Jones, Greg G; Mercier, Kelly K; Howarth, Karen K; Green, Emma E; Pérol, Maurice M; Saintigny, Pierre P; Besse, Benjamin B
Publication Date: 2020

Variant appearance in text: KIT: I798I
PubMed Link: 32525942
Variant Present in the following documents:
  • pone.0234302.s001.xlsx, 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: I798I
PubMed Link: 26158763
Variant Present in the following documents:
  • Main text
  • oncotarget-06-18250.pdf
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: I798I
PubMed Link: 25148223
Variant Present in the following documents:
  • Main text
  • bcj201461a.pdf
View BVdb publication page



Endometrial stromal tumors: immunohistochemical and molecular analysis of potential targets of tyrosine kinase inhibitors.

Clinical Sarcoma Research
Sardinha, Ruth R; Hernández, Teresa T; Fraile, Susana S; Tresserra, Francesc F; Vidal, August A; Gómez, Maria Carmén MC; Astudillo, Aurora A; Hernández, Nieves N; Saenz de Santamaría, Javier J; Ordi, Jaume J; Gonçalves, Luis L; Ramos, Rafael R; Balañá, Carmen C; de Álava, Enrique E
Publication Date: 2013-03-07

Variant appearance in text: N/A
PubMed Link: 23497641
Variant Present in the following documents:
View BVdb publication page



Prevalence of c-KIT mutations in gonadoblastoma and dysgerminomas of patients with disorders of sex development (DSD) and ovarian dysgerminomas.

Plos One
Hersmus, Remko R; Stoop, Hans H; van de Geijn, Gert Jan GJ; Eini, Ronak R; Biermann, Katharina K; Oosterhuis, J Wolter JW; Dhooge, Catharina C; Schneider, Dominik T DT; Meijssen, Isabelle C IC; Dinjens, Winand N M WN; Dubbink, Hendrikus Jan HJ; Drop, Stenvert L S SL; Looijenga, Leendert H J LH
Publication Date: 2012

Variant appearance in text: KIT: I798I
PubMed Link: 22937135
Variant Present in the following documents:
  • Main text
View BVdb publication page



Duodenal GIST: a single center experience.

International Journal Of Colorectal Disease
Beham, Alexander A; Schaefer, Inga-Marie IM; Cameron, Silke S; von Hammerstein, Katharina K; Füzesi, Laszlo L; Ramadori, Giuliano G; Ghadimi, Michael B MB
Publication Date: 2013-04

Variant appearance in text: KIT: I798I
PubMed Link: 22350270
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of MET and SRC activation in melanoma cell lines showing primary resistance to PLX4032.

Neoplasia (New York, N.Y.)
Vergani, Elisabetta E; Vallacchi, Viviana V; Frigerio, Simona S; Deho, Paola P; Mondellini, Piera P; Perego, Paola P; Cassinelli, Giuliana G; Lanzi, Cinzia C; Testi, Maria Adele MA; Rivoltini, Licia L; Bongarzone, Italia I; Rodolfo, Monica M
Publication Date: 2011-12

Variant appearance in text: N/A
PubMed Link: 22241959
Variant Present in the following documents:
View BVdb publication page



Allele-specific polymerase chain reaction for the imatinib-resistant KIT D816V and D816F mutations in mastocytosis and acute myelogenous leukemia.

The Journal Of Molecular Diagnostics : Jmd
Corless, Christopher L CL; Harrell, Patina P; Lacouture, Mario M; Bainbridge, Troy T; Le, Claudia C; Gatter, Ken K; White, Clifton C; Granter, Scott S; Heinrich, Michael C MC
Publication Date: 2006-11

Variant appearance in text: N/A
PubMed Link: 17065430
Variant Present in the following documents:
View BVdb publication page



Somatic mutations of KIT in familial testicular germ cell tumours.

British Journal Of Cancer
Rapley, E A EA; Hockley, S S; Warren, W W; Johnson, L L; Huddart, R R; Crockford, G G; Forman, D D; Leahy, M G MG; Oliver, D T DT; Tucker, K K; Friedlander, M M; Phillips, K-A KA; Hogg, D D; Jewett, M A S MA; Lohynska, R R; Daugaard, G G; Richard, S S; Heidenreich, A A; Geczi, L L; Bodrogi, I I; Olah, E E; Ormiston, W J WJ; Daly, P A PA; Looijenga, L H J LH; Guilford, P P; Aass, N N; Fosså, S D SD; Heimdal, K K; Tjulandin, S A SA; Liubchenko, L L; Stoll, H H; Weber, W W; Einhorn, L L; Weber, B L BL; McMaster, M M; Greene, M H MH; Bishop, D T DT; Easton, D D; Stratton, M R MR
Publication Date: 2004-06-14

Variant appearance in text: KIT: I798I
PubMed Link: 15150569
Variant Present in the following documents:
  • 90-6601880a.pdf
View BVdb publication page