KIT c.1486G>A ;(p.D496N)

Variant ID: 4-55592162-G-A

NM_000222.2(KIT):c.1486G>A;(p.D496N)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology
Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J
Publication Date: 2022

Variant appearance in text: KIT: 1486G>A; D496N
PubMed Link: 35814426
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



Integrative molecular profiling identifies two molecularly and clinically distinct subtypes of blastic plasmacytoid dendritic cell neoplasm.

Blood Cancer Journal
Künstner, Axel A; Schwarting, Julian J; Witte, Hanno M HM; Bernard, Veronica V; Stölting, Stephanie S; Kusch, Kathrin K; Nagarathinam, Kumar K; von Bubnoff, Nikolas N; Murga Penas, Eva Maria EM; Merz, Hartmut H; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N
Publication Date: 2022-07-04

Variant appearance in text: KIT: D496N; rs143179681
PubMed Link: 35788129
Variant Present in the following documents:
  • 41408_2022_699_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Targeted Sequencing of Ascites and Peritoneal Washing Fluid of Patients With Gastrointestinal Cancers and Their Clinical Applications and Limitations.

Frontiers In Oncology
Bae, Go Eun GE; Kim, Seok-Hwan SH; Choi, Min Kyung MK; Kim, Jin-Man JM; Yeo, Min-Kyung MK
Publication Date: 2021

Variant appearance in text: KIT: D496N
PubMed Link: 34336700
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine
Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ
Publication Date: 2020-10-27

Variant appearance in text: KIT: D496N
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes.

Nature Communications
Nagata, Yasunobu Y; Makishima, Hideki H; Kerr, Cassandra M CM; Przychodzen, Bartlomiej P BP; Aly, Mai M; Goyal, Abhinav A; Awada, Hassan H; Asad, Mohammad Fahad MF; Kuzmanovic, Teodora T; Suzuki, Hiromichi H; Yoshizato, Tetsuichi T; Yoshida, Kenichi K; Chiba, Kenichi K; Tanaka, Hiroko H; Shiraishi, Yuichi Y; Miyano, Satoru S; Mukherjee, Sudipto S; LaFramboise, Thomas T; Nazha, Aziz A; Sekeres, Mikkael A MA; Radivoyevitch, Tomas T; Haferlach, Torsten T; Ogawa, Seishi S; Maciejewski, Jaroslaw P JP
Publication Date: 2019-11-26

Variant appearance in text: KIT: D496N
PubMed Link: 31772163
Variant Present in the following documents:
  • 41467_2019_13001_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Clonal replacement of tumor-specific T cells following PD-1 blockade.

Nature Medicine
Yost, Kathryn E KE; Satpathy, Ansuman T AT; Wells, Daniel K DK; Qi, Yanyan Y; Wang, Chunlin C; Kageyama, Robin R; McNamara, Katherine L KL; Granja, Jeffrey M JM; Sarin, Kavita Y KY; Brown, Ryanne A RA; Gupta, Rohit K RK; Curtis, Christina C; Bucktrout, Samantha L SL; Davis, Mark M MM; Chang, Anne Lynn S ALS; Chang, Howard Y HY
Publication Date: 2019-08

Variant appearance in text: KIT: 1486G>A; D496N
PubMed Link: 31359002
Variant Present in the following documents:
  • NIHMS1531727-supplement-2.xlsx, sheet 2
View BVdb publication page



Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Genome Medicine
Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM
Publication Date: 2019-05-28

Variant appearance in text: KIT: 1486G>A; D496N
PubMed Link: 31133068
Variant Present in the following documents:
  • 13073_2019_644_MOESM3_ESM.xlsx, sheet 1
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: D496N
PubMed Link: 28327988
Variant Present in the following documents:
  • Main text
  • mdx079.pdf
View BVdb publication page



High-throughput profiling identifies clinically actionable mutations in salivary duct carcinoma.

Journal Of Translational Medicine
Ku, Bo Mi BM; Jung, Hyun Ae HA; Sun, Jong-Mu JM; Ko, Young Hyeh YH; Jeong, Han-Sin HS; Son, Young-Ik YI; Baek, Chung-Hwan CH; Park, Keunchil K; Ahn, Myung-Ju MJ
Publication Date: 2014-10-25

Variant appearance in text: KIT: D496N
PubMed Link: 25343854
Variant Present in the following documents:
  • Main text
  • 12967_2014_Article_299.pdf
View BVdb publication page