KIT c.2146G>A ;(p.D716N)

Variant ID: 4-55597498-G-A

NM_000222.2(KIT):c.2146G>A;(p.D716N)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Frontiers In Immunology
Punta, Marco M; Jennings, Victoria A VA; Melcher, Alan A AA; Lise, Stefano S
Publication Date: 2020

Variant appearance in text: KIT: D716N
PubMed Link: 33133066
Variant Present in the following documents:
  • Table_2.xlsx, sheet 2
  • Table_2.xlsx, sheet 7
  • Table_2.xlsx, sheet 1
  • Table_6.xlsx, sheet 9
  • Table_1.xlsx, sheet 4
  • Table_1.xlsx, sheet 8
  • Table_6.xlsx, sheet 4
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: rs769701248
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Secondary Resistant Mutations to Small Molecule Inhibitors in Cancer Cells.

Cancers
Hamid, Abdulaziz B AB; Petreaca, Ruben C RC
Publication Date: 2020-04-09

Variant appearance in text: KIT: D716N
PubMed Link: 32283832
Variant Present in the following documents:
  • cancers-12-00927-s001.pdf
View BVdb publication page



Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Journal Of Translational Medicine
Manca, Antonella A; Paliogiannis, Panagiotis P; Colombino, Maria M; Casula, Milena M; Lissia, Amelia A; Botti, Gerardo G; Caracò, Corrado C; Ascierto, Paolo A PA; Sini, Maria Cristina MC; Palomba, Grazia G; Pisano, Marina M; , ; , ; Doneddu, Valentina V; Cossu, Antonio A; Palmieri, Giuseppe G; ,
Publication Date: 2019-08-28

Variant appearance in text: KIT: 2146G>A; Asp716Asn; rs769701248
PubMed Link: 31455347
Variant Present in the following documents:
  • 12967_2019_2039_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: KIT: D716N
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



ARID1B alterations identify aggressive tumors in neuroblastoma.

Oncotarget
Lee, Soo Hyun SH; Kim, Jung-Sun JS; Zheng, Siyuan S; Huse, Jason T JT; Bae, Joon Seol JS; Lee, Ji Won JW; Yoo, Keon Hee KH; Koo, Hong Hoe HH; Kyung, Sungkyu S; Park, Woong-Yang WY; Sung, Ki W KW
Publication Date: 2017-07-11

Variant appearance in text: KIT: D716N
PubMed Link: 28521285
Variant Present in the following documents:
  • oncotarget-08-45943-s002.xlsx, sheet 2
View BVdb publication page



Prospective comprehensive genomic profiling of advanced gastric carcinoma cases reveals frequent clinically relevant genomic alterations and new routes for targeted therapies.

The Oncologist
Ali, Siraj M SM; Sanford, Eric M EM; Klempner, Samuel J SJ; Rubinson, Douglas A DA; Wang, Kai K; Palma, Norma A NA; Chmielecki, Juliann J; Yelensky, Roman R; Palmer, Gary A GA; Morosini, Deborah D; Lipson, Doron D; Catenacci, Daniel V DV; Braiteh, Fadi F; Erlich, Rachel R; Stephens, Philip J PJ; Ross, Jeffrey S JS; Ou, Sai-Hong Ignatius SH; Miller, Vincent A VA
Publication Date: 2015-05

Variant appearance in text: KIT: D716N
PubMed Link: 25882375
Variant Present in the following documents:
  • Main text
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: D716N
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 1
View BVdb publication page



Fresh surgical specimens yield breast stem/progenitor cells and reveal their oncogenic abnormalities.

Annals Of Surgical Oncology
Pommier, Suellen J SJ; Hernandez, Ariel A; Han, Esther E; Massimino, Kristen K; Muller, Patrick P; Diggs, Brian B; Chamberlain, Erin E; Murphy, Jennifer J; Hansen, Juliana J; Naik, Arpana A; Vetto, John J; Pommier, Rodney F RF
Publication Date: 2012-02

Variant appearance in text: KIT: D716N
PubMed Link: 21748247
Variant Present in the following documents:
  • 10434_2011_1892_MOESM2_ESM.pdf
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: D716N
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Mechanisms of drug resistance in kinases.

Expert Opinion On Investigational Drugs
Barouch-Bentov, Rina R; Sauer, Karsten K
Publication Date: 2011-02

Variant appearance in text: KIT: D716N
PubMed Link: 21235428
Variant Present in the following documents:
  • Main text
View BVdb publication page