KIT c.1654A>T ;(p.M552L)

Variant ID: 4-55593588-A-T

NM_000222.2(KIT):c.1654A>T;(p.M552L)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: KIT: M552L
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
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: 1654A>T; Met552Leu
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_4.xlsx, sheet 1
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: M552L
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Integrative omics analyses broaden treatment targets in human cancer.

Genome Medicine
Sengupta, Sohini S; Sun, Sam Q SQ; Huang, Kuan-Lin KL; Oh, Clara C; Bailey, Matthew H MH; Varghese, Rajees R; Wyczalkowski, Matthew A MA; Ning, Jie J; Tripathi, Piyush P; McMichael, Joshua F JF; Johnson, Kimberly J KJ; Kandoth, Cyriac C; Welch, John J; Ma, Cynthia C; Wendl, Michael C MC; Payne, Samuel H SH; Fenyö, David D; Townsend, Reid R RR; Dipersio, John F JF; Chen, Feng F; Ding, Li L
Publication Date: 2018-07-27

Variant appearance in text: KIT: M552L
PubMed Link: 30053901
Variant Present in the following documents:
  • 13073_2018_564_MOESM2_ESM.xlsx, sheet 2
  • 13073_2018_564_MOESM2_ESM.xlsx, sheet 10
  • 13073_2018_564_MOESM2_ESM.xlsx, sheet 8
  • 13073_2018_564_MOESM2_ESM.xlsx, sheet 19
  • 13073_2018_564_MOESM2_ESM.xlsx, sheet 17
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Oncogene mutational analysis in Chinese gastrointestinal stromal tumor patients.

Oncotargets And Therapy
Chen, Qiong Q; Li, Rong R; Zhang, Zhi-Gao ZG; Deng, Qiao-Ting QT; Li, Kun K; Wang, Hao H; Yang, Xue-Xi XX; Wu, Ying-Song YS
Publication Date: 2018

Variant appearance in text: KIT: M552L
PubMed Link: 29719410
Variant Present in the following documents:
  • Main text
  • ott-11-2279.pdf
View BVdb publication page



Overexpression of wildtype EGFR is tumorigenic and denotes a therapeutic target in non-small cell lung cancer.

Oncotarget
Xu, Naiqing N; Fang, Wenfeng W; Mu, Libing L; Tang, Yanna Y; Gao, Lei L; Ren, Shengxiang S; Cao, Dengfeng D; Zhou, Lixin L; Zhang, Aiqun A; Liu, Deruo D; Zhou, Caicun C; Wong, Kwok-Kin KK; Yu, Lei L; Zhang, Li L; Chen, Liang L
Publication Date: 2016-01-26

Variant appearance in text: KIT: M552L
PubMed Link: 26646697
Variant Present in the following documents:
  • oncotarget-07-3884-s001.pdf
View BVdb publication page



Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology
Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B
Publication Date: 2014-10-28

Variant appearance in text: KIT: M552L
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: KIT: M552L
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



Absence of 19 known hotspot oncogenic mutations in soft tissue clear cell sarcoma: two cases report with review of the literature.

International Journal Of Clinical And Experimental Pathology
Liu, Chunxia C; Ren, Yan Y; Li, Xiaoying X; Cao, Yuwen Y; Chen, Yunzhao Y; Cui, Xiaobin X; Li, Li L; Li, Feng F
Publication Date: 2014

Variant appearance in text: KIT: M552L
PubMed Link: 25197404
Variant Present in the following documents:
  • Main text
View BVdb publication page



Oncogene mutational profile in nasopharyngeal carcinoma.

Oncotargets And Therapy
Zhang, Zi-Chen ZC; Fu, Sha S; Wang, Fang F; Wang, Hai-Yun HY; Zeng, Yi-Xin YX; Shao, Jian-Yong JY
Publication Date: 2014

Variant appearance in text: KIT: M552L
PubMed Link: 24672248
Variant Present in the following documents:
  • Main text
  • ott-7-457.pdf
View BVdb publication page



Genotyping and genomic profiling of non-small-cell lung cancer: implications for current and future therapies.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Li, Tianhong T; Kung, Hsing-Jien HJ; Mack, Philip C PC; Gandara, David R DR
Publication Date: 2013-03-10

Variant appearance in text: KIT: M552L
PubMed Link: 23401433
Variant Present in the following documents:
  • Main text
View BVdb publication page



Oncogene Mutation Survey in MPNST Cell Lines Enhances the Dominant Role of Hyperactive Ras in NF1 Associated Pro-Survival and Malignancy.

Translational Oncogenomics
Sun, Daochun D; Tainsky, Michael A MA; Haddad, Ramsi R
Publication Date: 2012

Variant appearance in text: KIT: M552L
PubMed Link: 22346343
Variant Present in the following documents:
  • Main text
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: M552L
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: M552L
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Neoadjuvant, adjuvant and palliative treatment of gastrointestinal stromal tumours (GIST) with imatinib: a centre-based study of 17 patients.

British Journal Of Cancer
Bümming, P P; Andersson, J J; Meis-Kindblom, J M JM; Klingenstierna, H H; Engström, K K; Stierner, U U; Wängberg, B B; Jansson, S S; Ahlman, H H; Kindblom, L-G LG; Nilsson, B B
Publication Date: 2003-08-04

Variant appearance in text: KIT: M552L
PubMed Link: 12888812
Variant Present in the following documents:
  • Main text
  • 89-6600965a.pdf
View BVdb publication page