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KIT c.120T>G ;(p.H40Q)
Variant ID: 4-55561730-T-G
NM_000222.2(
KIT
):c.120T>G;(p.H40Q)
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:
Molecular convergence and transgenic evidence suggest a single origin of laryngeal echolocation in bats.
Iscience
Liu, Zhen Z; Chen, Peng P; Xu, Dong-Ming DM; Qi, Fei-Yan FY; Guo, Yuan-Ting YT; Liu, Qi Q; Bai, Jing J; Zhou, Xin X; Shi, Peng P
Publication Date: 2022-04-15
Variant appearance in text: KIT: H40Q
PubMed Link:
35391832
Variant Present in the following documents:
mmc7.xlsx, sheet 1
View BVdb publication page
Comprehensive molecular profiling of pulmonary pleomorphic carcinoma.
Npj Precision Oncology
Nagano, Masaaki M; Kohsaka, Shinji S; Hayashi, Takuo T; Ueno, Toshihide T; Kojima, Shinya S; Shinozaki-Ushiku, Aya A; Morita, Shigeki S; Tsuda, Masumi M; Tanaka, Shinya S; Shinohara, Toshiya T; Omori, Yuko Y; Sugaya, Fumiko F; Kato, Hiroaki H; Narita, Yoshiaki Y; Nakajima, Jun J; Suzuki, Kenji K; Takamochi, Kazuya K; Mano, Hiroyuki H
Publication Date: 2021-06-22
Variant appearance in text: KIT: 120T>G; His40Gln
PubMed Link:
34158601
Variant Present in the following documents:
41698_2021_201_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.
Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01
Variant appearance in text: KIT: H40Q
PubMed Link:
33795819
Variant Present in the following documents:
42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page
Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses.
Plos Genetics
Hauswirth, Regula R; Haase, Bianca B; Blatter, Marlis M; Brooks, Samantha A SA; Burger, Dominik D; Drögemüller, Cord C; Gerber, Vincent V; Henke, Diana D; Janda, Jozef J; Jude, Rony R; Magdesian, K Gary KG; Matthews, Jacqueline M JM; Poncet, Pierre-André PA; Svansson, Vilhjálmur V; Tozaki, Teruaki T; Wilkinson-White, Lorna L; Penedo, M Cecilia T MC; Rieder, Stefan S; Leeb, Tosso T
Publication Date: 2012
Variant appearance in text: KIT: H40Q
PubMed Link:
22511888
Variant Present in the following documents:
Main text
pgen.1002653.pdf
View BVdb publication page