KIT c.1849G>T ;(p.A617S)

Variant ID: 4-55594063-G-T

NM_000222.2(KIT):c.1849G>T;(p.A617S)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


CNL and aCML should be considered as single entity based on molecular profiles and outcomes.

Blood Advances
Carreño-Tarragona, Gonzalo G; Alvarez-Larran, Alberto A; Harrison, Claire N CN; Martínez-Ávila, José Carlos JC; Hernandez-Boluda, Juan Carlos JC; Ferrer-Marin, Francisca F; Radia, Deepti H DH; Mora Casterá, Elvira E; Francis, Sebastian S; González-Martínez, Teresa T; Goddard, Kathryn K; Perez-Encinas, Manuel M; Narayanan, Srinivasan S; Raya, Jose Maria JM; Singh, Vikram V; Toth, Peter P; Gutiérrez, Xabier X; Amat Martinez, Paula P; McIlwaine, Louisa L; Alobaidi, Magda M; Mayani, Karan K; McGregor, Andrew A; Stuckey, Ruth R; Psaila, Bethan B; Segura, Adrian A; Alvares, Caroline L CL; Davidson, Kerri K; Osorio, Santiago S; Cutting, Robert R; Sweeney, Caroline P CP; Rufian, Laura L; Moreno, Laura L; Cuenca, Isabel I; Smith, Jeffrey J; Morales, María Luz ML; Gil-Manso, Rodrigo R; Koutsavlis, Ioannis I; Wang, Lihui L; Mead, Adam J AJ; Rozman, Maria M; Martínez-López, Joaquin J; Ayala, Rosa R; Cross, Nicholas Cp NC
Publication Date: 2022-11-14

Variant appearance in text: KIT: 1849G>T
PubMed Link: 36375042
Variant Present in the following documents:
  • BLOODA_ADV-2022-008204-mmc1.pdf
View BVdb publication page



Genomic landscape of platinum resistant and sensitive testicular cancers.

Nature Communications
Loveday, Chey C; Litchfield, Kevin K; Proszek, Paula Z PZ; Cornish, Alex J AJ; Santo, Flavia F; Levy, Max M; Macintyre, Geoff G; Holryod, Amy A; Broderick, Peter P; Dudakia, Darshna D; Benton, Barbara B; Bakir, Maise Al MA; Hiley, Crispin C; Grist, Emily E; Swanton, Charles C; Huddart, Robert R; Powles, Tom T; Chowdhury, Simon S; Shipley, Janet J; O'Connor, Simon S; Brenton, James D JD; Reid, Alison A; de Castro, David Gonzalez DG; Houlston, Richard S RS; Turnbull, Clare C
Publication Date: 2020-05-04

Variant appearance in text: KIT: A617S
PubMed Link: 32366847
Variant Present in the following documents:
  • 41467_2020_15768_MOESM7_ESM.xlsx, sheet 2
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: A617S
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Korean Society for Genetic Diagnostics Guidelines for Validation of Next-Generation Sequencing-Based Somatic Variant Detection in Hematologic Malignancies.

Annals Of Laboratory Medicine
Kim, Heyjin H; Yun, Jae Won JW; Lee, Seung Tae ST; Kim, Hee Jin HJ; Kim, Sun Hee SH; Kim, Jong Won JW; ,
Publication Date: 2019-11

Variant appearance in text: KIT: 1849G>T
PubMed Link: 31240878
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multilaboratory Assessment of a New Reference Material for Quality Assurance of Cell-Free Tumor DNA Measurements.

The Journal Of Molecular Diagnostics : Jmd
He, Hua-Jun HJ; Stein, Erica V EV; Konigshofer, Yves Y; Forbes, Thomas T; Tomson, Farol L FL; Garlick, Russell R; Yamada, Emiko E; Godfrey, Tony T; Abe, Toshiya T; Tamura, Koji K; Borges, Michael M; Goggins, Michael M; Elmore, Sandra S; Gulley, Margaret L ML; Larson, Jessica L JL; Ringel, Lando L; Haynes, Brian C BC; Karlovich, Chris C; Williams, P Mickey PM; Garnett, Aaron A; Ståhlberg, Anders A; Filges, Stefan S; Sorbara, Lynn L; Young, Mathew R MR; Srivastava, Sudhir S; Cole, Kenneth D KD
Publication Date: 2019-07

Variant appearance in text: KIT: 1849G>T
PubMed Link: 31055023
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Functional genomic landscape of acute myeloid leukaemia.

Nature
Tyner, Jeffrey W JW; Tognon, Cristina E CE; Bottomly, Daniel D; Wilmot, Beth B; Kurtz, Stephen E SE; Savage, Samantha L SL; Long, Nicola N; Schultz, Anna Reister AR; Traer, Elie E; Abel, Melissa M; Agarwal, Anupriya A; Blucher, Aurora A; Borate, Uma U; Bryant, Jade J; Burke, Russell R; Carlos, Amy A; Carpenter, Richie R; Carroll, Joseph J; Chang, Bill H BH; Coblentz, Cody C; d'Almeida, Amanda A; Cook, Rachel R; Danilov, Alexey A; Dao, Kim-Hien T KT; Degnin, Michie M; Devine, Deirdre D; Dibb, James J; Edwards, David K DK; Eide, Christopher A CA; English, Isabel I; Glover, Jason J; Henson, Rachel R; Ho, Hibery H; Jemal, Abdusebur A; Johnson, Kara K; Johnson, Ryan R; Junio, Brian B; Kaempf, Andy A; Leonard, Jessica J; Lin, Chenwei C; Liu, Selina Qiuying SQ; Lo, Pierrette P; Loriaux, Marc M MM; Luty, Samuel S; Macey, Tara T; MacManiman, Jason J; Martinez, Jacqueline J; Mori, Motomi M; Nelson, Dylan D; Nichols, Ceilidh C; Peters, Jill J; Ramsdill, Justin J; Rofelty, Angela A; Schuff, Robert R; Searles, Robert R; Segerdell, Erik E; Smith, Rebecca L RL; Spurgeon, Stephen E SE; Sweeney, Tyler T; Thapa, Aashis A; Visser, Corinne C; Wagner, Jake J; Watanabe-Smith, Kevin K; Werth, Kristen K; Wolf, Joelle J; White, Libbey L; Yates, Amy A; Zhang, Haijiao H; Cogle, Christopher R CR; Collins, Robert H RH; Connolly, Denise C DC; Deininger, Michael W MW; Drusbosky, Leylah L; Hourigan, Christopher S CS; Jordan, Craig T CT; Kropf, Patricia P; Lin, Tara L TL; Martinez, Micaela E ME; Medeiros, Bruno C BC; Pallapati, Rachel R RR; Pollyea, Daniel A DA; Swords, Ronan T RT; Watts, Justin M JM; Weir, Scott J SJ; Wiest, David L DL; Winters, Ryan M RM; McWeeney, Shannon K SK; Druker, Brian J BJ
Publication Date: 2018-10

Variant appearance in text: CD117: 1849G>T
PubMed Link: 30333627
Variant Present in the following documents:
  • NIHMS1504008-supplement-Supplementary_Tables_S1-S22.xlsx, sheet 5
View BVdb publication page



Favorable impact of allogeneic stem cell transplantation in patients with therapy-related myelodysplasia regardless of TP53 mutational status.

Haematologica
Aldoss, Ibrahim I; Pham, Anh A; Li, Sierra Min SM; Gendzekhadze, Ketevan K; Afkhami, Michelle M; Telatar, Milhan M; Hong, Hao H; Padeganeh, Abbas A; Bedell, Victoria V; Cao, Thai T; Khaled, Samer K SK; Malki, Monzr M Al MMA; Salhotra, Amandeep A; Ali, Haris H; Aribi, Ahmed A; Palmer, Joycelynne J; Aoun, Patricia P; Spielberger, Ricardo R; Stein, Anthony S AS; Snyder, David D; O'Donnell, Margaret R MR; Murata-Collins, Joyce J; Senitzer, David D; Weisenburger, Dennis D; Forman, Stephen J SJ; Pullarkat, Vinod V; Marcucci, Guido G; Pillai, Raju R; Nakamura, Ryotaro R
Publication Date: 2017-12

Variant appearance in text: KIT: 1849G>T
PubMed Link: 28971906
Variant Present in the following documents:
  • 2017.172544.ALDOSS_SUPPL.pdf
View BVdb publication page