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TSC2 c.2252G>A ;(p.R751Q)
Variant ID: 16-2122881-G-A
NM_000548.3(
TSC2
):c.2252G>A;(p.R751Q)
This variant was identified in 3 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 Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.
Cancer Science
Kage, Hidenori H; Shinozaki-Ushiku, Aya A; Ishigaki, Kazunaga K; Sato, Yusuke Y; Tanabe, Masahiko M; Tanaka, Shota S; Tanikawa, Michihiro M; Watanabe, Kousuke K; Kato, Shingo S; Akagi, Kiwamu K; Uchino, Keita K; Mitani, Kinuko K; Takahashi, Shunji S; Miura, Yuji Y; Ikeda, Sadakatsu S; Kojima, Yasushi Y; Watanabe, Kiyotaka K; Mochizuki, Hitoshi H; Yamaguchi, Hironori H; Kawazoe, Yoshimasa Y; Kashiwabara, Kosuke K; Kohsaka, Shinji S; Tatsuno, Kenji K; Ushiku, Tetsuo T; Ohe, Kazuhiko K; Yatomi, Yutaka Y; Seto, Yasuyuki Y; Aburatani, Hiroyuki H; Mano, Hiroyuki H; Miyagawa, Kiyoshi K; Oda, Katsutoshi K
Publication Date: 2023-01-05
Variant appearance in text: TSC2: 2252G>A; R751Q
PubMed Link:
36601953
Variant Present in the following documents:
CAS-114-1710-s001.xlsx, sheet 1
View BVdb publication page
Mutational analysis of renal angiomyolipoma associated with tuberous sclerosis complex and the outcome of short-term everolimus therapy.
Scientific Reports
Ni, Jianxin J; Yan, Fengqi F; Qin, Weijun W; Yu, Lei L; Zhang, Geng G; Liu, Fei F; Yang, Xiaojian X; Yang, Bo B; Hao, Chunlin C; Wang, Teng T; Liu, Pengfei P; Yuan, Jianlin J; Wu, Guojun G
Publication Date: 2019-10-04
Variant appearance in text: TSC2: Arg751Gln
PubMed Link:
31586081
Variant Present in the following documents:
Main text
41598_2019_Article_49814.pdf
View BVdb publication page
Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.
Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08
Variant appearance in text: TSC2: R751Q
PubMed Link:
29296220
Variant Present in the following documents:
oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page