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KIT c.1670_1671delinsTT ;(p.W557F)
Variant ID: 4-55593604-GG-TT
NM_000222.2(
KIT
):c.1670_1671delinsTT;(p.W557F)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: rs1057520035
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: W557F
PubMed Link:
32958805
Variant Present in the following documents:
41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
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: W557F
PubMed Link:
32082541
Variant Present in the following documents:
Main text
13578_2020_Article_377.pdf
View BVdb publication page
Case report of rhabdomyosarcomatous transformation of a primary gastrointestinal stromal tumor (GIST).
Bmc Cancer
Li, Li L; Khalili, Marian M; Johannes, Gregg G; Baratam, Praneeth P; Morano, William F WF; Styler, Michael M; Bowne, Wilbur B WB; Hou, J Steve JS
Publication Date: 2019-09-13
Variant appearance in text: KIT: Trp557Phe
PubMed Link:
31514735
Variant Present in the following documents:
Main text
12885_2019_Article_6085.pdf
View BVdb publication page