KIT c.1650A>C ;(p.K550N)

Variant ID: 4-55593584-A-C

NM_000222.2(KIT):c.1650A>C;(p.K550N)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Genomic profiles of Indonesian colorectal cancer patients.

F1000Research
Abdullah, Murdani M; Meilany, Sofy S; Trimarsanto, Hidayat H; Malik, Safarina G SG; Sukartini, Ninik N; Idrus, Firhat F; Nursyirwan, Saskia A SA; Muzellina, Virly N VN; Pribadi, Rabbinu R RR; Utari, Amanda P AP; Maulahela, Hasan H; Syam, Ari F AF
Publication Date: 2022

Variant appearance in text: KIT: K550N
PubMed Link: 37125020
Variant Present in the following documents:
  • Main text
  • f1000research-11-144370.pdf
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: KIT: K550N
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
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: rs1057519703
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: N/A
PubMed Link: 32958805
Variant Present in the following documents:
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: KIT: K550N
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 11
View BVdb publication page



Diagnostic Problems in Chronic Basophilic Leukemia

Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology
Çehreli, Cavit C
Publication Date: 2018-11-13

Variant appearance in text: CD117: K550N
PubMed Link: 30401657
Variant Present in the following documents:
  • TJH-35-283.pdf
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: KIT: 1650A>C; Lys550Asn
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s10.xlsx, sheet 9
View BVdb publication page



Prevalence and detection of low-allele-fraction variants in clinical cancer samples.

Nature Communications
Shin, Hyun-Tae HT; Choi, Yoon-La YL; Yun, Jae Won JW; Kim, Nayoung K D NKD; Kim, Sook-Young SY; Jeon, Hyo Jeong HJ; Nam, Jae-Yong JY; Lee, Chung C; Ryu, Daeun D; Kim, Sang Cheol SC; Park, Kyunghee K; Lee, Eunjin E; Bae, Joon Seol JS; Son, Dae Soon DS; Joung, Je-Gun JG; Lee, Jeeyun J; Kim, Seung Tae ST; Ahn, Myung-Ju MJ; Lee, Se-Hoon SH; Ahn, Jin Seok JS; Lee, Woo Yong WY; Oh, Bo Young BY; Park, Yeon Hee YH; Lee, Jeong Eon JE; Lee, Kwang Hyuk KH; Kim, Hee Cheol HC; Kim, Kyoung-Mee KM; Im, Young-Hyuck YH; Park, Keunchil K; Park, Peter J PJ; Park, Woong-Yang WY
Publication Date: 2017-11-09

Variant appearance in text: KIT: K550N
PubMed Link: 29123093
Variant Present in the following documents:
  • 41467_2017_1470_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Clinics, prognosis and new therapeutic options in patients with mucosal melanoma: A retrospective analysis of 75 patients.

Medicine
Schaefer, Tim T; Satzger, Imke I; Gutzmer, Ralf R
Publication Date: 2017-01

Variant appearance in text: KIT: K550N
PubMed Link: 28072717
Variant Present in the following documents:
  • Main text
  • medi-96-e5753.pdf
View BVdb publication page



Screening of C-kit gene Mutation in Acute Myeloid Leukaemia in Northern India.

Iranian Journal Of Cancer Prevention
Hussain, S R SR; Raza, S T ST; Babu, S G SG; Singh, P P; Naqvi, H H; Mahdi, F F
Publication Date: 2012

Variant appearance in text: KIT: Lys550Asn
PubMed Link: 25780536
Variant Present in the following documents:
  • Main text
  • IJCP-05-027.pdf
View BVdb publication page



Mast cell leukemia associated with undefined morphology and chronic basophilic leukemia.

Bmc Hematology
Cehreli, Cavit C; Alacacioglu, Inci I; Piskin, Ozden O; Ates, Halil H; Cehreli, Ruksan R; Calibasi, Gizem G; Yuksel, Erdinc E; Ozkal, Sermin S; Ozsan, Guner H GH
Publication Date: 2014

Variant appearance in text: CD117: K550N
PubMed Link: 25264491
Variant Present in the following documents:
  • Main text
  • 12878_2013_Article_28.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: K550N
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Analysis of c-KIT expression and KIT gene mutation in human mucosal melanomas.

British Journal Of Cancer
Satzger, I I; Schaefer, T T; Kuettler, U U; Broecker, V V; Voelker, B B; Ostertag, H H; Kapp, A A; Gutzmer, R R
Publication Date: 2008-12-16

Variant appearance in text: KIT: K550N
PubMed Link: 19018266
Variant Present in the following documents:
  • Main text
  • 6604791a.pdf
View BVdb publication page