KIT c.1672A>C ;(p.K558Q)

Variant ID: 4-55593606-A-C

NM_000222.2(KIT):c.1672A>C;(p.K558Q)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


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: rs1057520031
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: KIT: K558Q
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology
Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N
Publication Date: 2020

Variant appearance in text: KIT: 1672A>C; K558Q
PubMed Link: 32373528
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Loss of PI3 kinase association improves the sensitivity of secondary mutation of KIT to Imatinib.

Cell & Bioscience
Zhu, Guangrong G; Shi, Jun J; Zhang, Shaoting S; Guo, Yue Y; Huang, Ling L; Zhao, Hui H; Jiang, Yideng Y; Sun, Jianmin J
Publication Date: 2020

Variant appearance in text: KIT: K558Q
PubMed Link: 32082541
Variant Present in the following documents:
  • Main text
  • 13578_2020_Article_377.pdf
View BVdb publication page



Driver gene alterations and activated signaling pathways toward malignant progression of gastrointestinal stromal tumors.

Cancer Science
Ohshima, Keiichi K; Fujiya, Keiichi K; Nagashima, Takeshi T; Ohnami, Sumiko S; Hatakeyama, Keiichi K; Urakami, Kenichi K; Naruoka, Akane A; Watanabe, Yuko Y; Moromizato, Sachi S; Shimoda, Yuji Y; Ohnami, Shumpei S; Serizawa, Masakuni M; Akiyama, Yasuto Y; Kusuhara, Masatoshi M; Mochizuki, Tohru T; Sugino, Takashi T; Shiomi, Akio A; Tsubosa, Yasuhiro Y; Uesaka, Katsuhiko K; Terashima, Masanori M; Yamaguchi, Ken K
Publication Date: 2019-12

Variant appearance in text: KIT: 1672A>C; K558Q; rs1057520031
PubMed Link: 31553483
Variant Present in the following documents:
  • CAS-110-3821-s008.xlsx, sheet 1
  • CAS-110-3821-s012.xlsx, sheet 1
  • CAS-110-3821-s012.xlsx, sheet 2
  • CAS-110-3821-s009.xlsx, sheet 1
View BVdb publication page



Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer
Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L
Publication Date: 2019-02-01

Variant appearance in text: KIT: 1672A>C; K558Q
PubMed Link: 30709382
Variant Present in the following documents:
  • 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Receptor tyrosine kinase (c-Kit) inhibitors: a potential therapeutic target in cancer cells.

Drug Design, Development And Therapy
Abbaspour Babaei, Maryam M; Kamalidehghan, Behnam B; Saleem, Mohammad M; Huri, Hasniza Zaman HZ; Ahmadipour, Fatemeh F
Publication Date: 2016

Variant appearance in text: CD117: K558Q
PubMed Link: 27536065
Variant Present in the following documents:
  • Main text
  • dddt-10-2443.pdf
View BVdb publication page



Concomitant KIT/BRAF and PDGFRA/BRAF mutations are rare events in gastrointestinal stromal tumors.

Oncotarget
Rossi, Sabrina S; Sbaraglia, Marta M; Dell'Orto, Marta Campo MC; Gasparotto, Daniela D; Cacciatore, Matilde M; Boscato, Elena E; Carraro, Valentina V; Toffolatti, Luisa L; Gallina, Giovanna G; Niero, Monia M; Pilozzi, Emanuela E; Mandolesi, Alessandra A; Sessa, Fausto F; Sonzogni, Aurelio A; Mancini, Cristina C; Mazzoleni, Guido G; Romeo, Salvatore S; Maestro, Roberta R; Dei Tos, Angelo P AP
Publication Date: 2016-05-24

Variant appearance in text: KIT: Lys558Gln
PubMed Link: 27097112
Variant Present in the following documents:
  • Main text
  • oncotarget-07-30109.pdf
View BVdb publication page



Identification of c-kit gene mutations in primary adenoid cystic carcinoma of the salivary gland.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Vila, Lizette L; Liu, Hongyan H; Al-Quran, Samer Z SZ; Coco, Dominique P DP; Dong, Hui-Jia HJ; Liu, Chen C
Publication Date: 2009-10

Variant appearance in text: KIT: Lys558Gln
PubMed Link: 19617878
Variant Present in the following documents:
  • Main text
View BVdb publication page