KIT c.2440G>T ;(p.A814S)

Variant ID: 4-55599314-G-T

NM_000222.2(KIT):c.2440G>T;(p.A814S)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.

Cancers
González-López, Oscar O; Muñoz-González, Javier I JI; Orfao, Alberto A; Álvarez-Twose, Iván I; García-Montero, Andrés C AC
Publication Date: 2022-05-18

Variant appearance in text: KIT: A814S
PubMed Link: 35626091
Variant Present in the following documents:
  • cancers-14-02487.pdf
View BVdb publication page



Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: KIT: 2440G>T; A814S
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_4.xlsx, sheet 1
View BVdb publication page



Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology
Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN
Publication Date: 2021

Variant appearance in text: KIT: A814S
PubMed Link: 34113354
Variant Present in the following documents:
  • Table_1.xlsx, sheet 18
View BVdb publication page



Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications
Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L
Publication Date: 2021-04-19

Variant appearance in text: KIT: A814S
PubMed Link: 33875650
Variant Present in the following documents:
  • 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1
  • 41467_2021_22481_MOESM4_ESM.xlsx, sheet 5
  • 41467_2021_22481_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Landscape of drug-resistance mutations in kinase regulatory hotspots.

Briefings In Bioinformatics
Kim, Pora P; Li, Hanyang H; Wang, Junmei J; Zhao, Zhongming Z
Publication Date: 2021-05-20

Variant appearance in text: KIT: A814S
PubMed Link: 32510566
Variant Present in the following documents:
  • Main text
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: A814S
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Chromatin-Based Classification of Genetically Heterogeneous AMLs into Two Distinct Subtypes with Diverse Stemness Phenotypes.

Cell Reports
Yi, Guoqiang G; Wierenga, Albertus T J ATJ; Petraglia, Francesca F; Narang, Pankaj P; Janssen-Megens, Eva M EM; Mandoli, Amit A; Merkel, Angelika A; Berentsen, Kim K; Kim, Bowon B; Matarese, Filomena F; Singh, Abhishek A AA; Habibi, Ehsan E; Prange, Koen H M KHM; Mulder, André B AB; Jansen, Joop H JH; Clarke, Laura L; Heath, Simon S; van der Reijden, Bert A BA; Flicek, Paul P; Yaspo, Marie-Laure ML; Gut, Ivo I; Bock, Christoph C; Schuringa, Jan Jacob JJ; Altucci, Lucia L; Vellenga, Edo E; Stunnenberg, Hendrik G HG; Martens, Joost H A JHA
Publication Date: 2019-01-22

Variant appearance in text: KIT: 2440G>T
PubMed Link: 30673601
Variant Present in the following documents:
  • NIHMS81493-supplement-Supplemental_material.pdf
View BVdb publication page



Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
Publication Date: 2018-05-14

Variant appearance in text: KIT: A814S
PubMed Link: 29657128
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: KIT: Ala814Ser
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-6.xlsx, sheet 1
View BVdb publication page



Intratumoral KIT mutational heterogeneity and recurrent KIT/ PDGFRA mutations in KIT/PDGFRA wild-type gastrointestinal stromal tumors.

Oncotarget
Gao, Jing J; Li, Jian J; Li, Yanyan Y; Li, Zhongwu Z; Gong, Jifang J; Wu, Jian J; Liu, Na N; Dong, Bin B; Qi, Changsong C; Li, Jie J; Shen, Lin L
Publication Date: 2016-05-24

Variant appearance in text: KIT: A814S
PubMed Link: 26848617
Variant Present in the following documents:
  • Main text
  • oncotarget-07-30241.pdf
View BVdb publication page



Activating c-KIT mutations confer oncogenic cooperativity and rescue RUNX1/ETO-induced DNA damage and apoptosis in human primary CD34+ hematopoietic progenitors.

Leukemia
Wichmann, C C; Quagliano-Lo Coco, I I; Yildiz, Ö Ö; Chen-Wichmann, L L; Weber, H H; Syzonenko, T T; Döring, C C; Brendel, C C; Ponnusamy, K K; Kinner, A A; Brandts, C C; Henschler, R R; Grez, M M
Publication Date: 2015-02

Variant appearance in text: KIT: A814S
PubMed Link: 24897507
Variant Present in the following documents:
  • Main text
  • leu2014179a.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: A814S
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
  • 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: A814S
PubMed Link: 21998754
Variant Present in the following documents:
View BVdb publication page



Systemic mastocytosis associated with t(8;21)(q22;q22) acute myeloid leukemia.

Journal Of Hematopathology
Pullarkat, Sheeja T ST; Pullarkat, Vinod V; Kroft, Steven H SH; Wilson, Carla S CS; Ahsanuddin, Arshad N AN; Mann, Karen P KP; Thein, Maung M; Grody, Wayne W WW; Brynes, Russell K RK
Publication Date: 2009-03

Variant appearance in text: CD117: A814S
PubMed Link: 19669220
Variant Present in the following documents:
  • Main text
  • 12308_2009_Article_23.pdf
View BVdb publication page