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KIT c.1618G>T ;(p.V540L)
Variant ID: 4-55593461-G-T
NM_000222.2(
KIT
):c.1618G>T;(p.V540L)
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:
Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.
Plos One
Aoyagi, Yasuko Y; Kano, Yoshihito Y; Tohyama, Kohki K; Matsudera, Shotaro S; Kumaki, Yuichi Y; Takahashi, Kenta K; Mitsumura, Takahiro T; Harada, Yohei Y; Sato, Akemi A; Nakamura, Hideaki H; Sueoka, Eisaburo E; Aragane, Naoko N; Kimura, Koichiro K; Onishi, Iichiro I; Takemoto, Akira A; Akahoshi, Keiichi K; Ono, Hiroaki H; Ishikawa, Toshiaki T; Tokunaga, Masanori M; Nakagawa, Tsuyoshi T; Oshima, Noriko N; Nakamura, Reiko R; Takagi, Masatoshi M; Asakage, Takahiro T; Uetake, Hiroyuki H; Tanabe, Minoru M; Miyake, Satoshi S; Kinugasa, Yusuke Y; Ikeda, Sadakatsu S
Publication Date: 2022
Variant appearance in text: KIT: V540L
PubMed Link:
35358259
Variant Present in the following documents:
pone.0266112.s001.xlsx, sheet 1
View BVdb publication page
Impact of clinical targeted sequencing on endocrine responsiveness in estrogen receptor-positive, HER2-negative metastatic breast cancer.
Scientific Reports
Hagio, Kanako K; Amano, Toraji T; Hayashi, Hideyuki H; Takeshita, Takashi T; Oshino, Tomohiro T; Kikuchi, Junko J; Ohhara, Yoshihito Y; Yabe, Ichiro I; Kinoshita, Ichiro I; Nishihara, Hiroshi H; Yamashita, Hiroko H
Publication Date: 2021-04-14
Variant appearance in text: KIT: V540L
PubMed Link:
33854152
Variant Present in the following documents:
Main text
41598_2021_Article_87645.pdf
View BVdb publication page
High prevalence of TP53 mutations is associated with poor survival and an EMT signature in gliosarcoma patients.
Experimental & Molecular Medicine
Cho, Sung-Yup SY; Park, Changho C; Na, Deukchae D; Han, Jee Yun JY; Lee, Jieun J; Park, Ok-Kyoung OK; Zhang, Chengsheng C; Sung, Chang Ohk CO; Moon, Hyo Eun HE; Kim, Yona Y; Kim, Jeong Hoon JH; Kim, Jong Jae JJ; Khang, Shin Kwang SK; Nam, Do-Hyun DH; Choi, Jung Won JW; Suh, Yeon-Lim YL; Kim, Dong Gyu DG; Park, Sung Hye SH; Youn, Hyewon H; Yun, Kyuson K; Kim, Jong-Il JI; Lee, Charles C; Paek, Sun Ha SH; Park, Hansoo H
Publication Date: 2017-04-14
Variant appearance in text: KIT: V540L
PubMed Link:
28408749
Variant Present in the following documents:
emm20179x1.xlsx, sheet 4
View BVdb publication page
Germline Variants of Prostate Cancer in Japanese Families.
Plos One
Hayano, Takahide T; Matsui, Hiroshi H; Nakaoka, Hirofumi H; Ohtake, Nobuaki N; Hosomichi, Kazuyoshi K; Suzuki, Kazuhiro K; Inoue, Ituro I
Publication Date: 2016
Variant appearance in text: KIT: V540L
PubMed Link:
27701467
Variant Present in the following documents:
pone.0164233.s005.xlsx, sheet 1
View BVdb publication page