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TSC2 c.500G>T ;(p.W167L)
Variant ID: 16-2105421-G-T
NM_000548.3(
TSC2
):c.500G>T;(p.W167L)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Redefine Hyperprogressive Disease During Treatment With Immune-Checkpoint Inhibitors in Patients With Gastrointestinal Cancer.
Frontiers In Oncology
Wang, Zhenghang Z; Liu, Chang C; Bai, Yuezong Y; Zhao, Xiaochen X; Cui, Longgang L; Peng, Zhi Z; Zhang, Xiaotian X; Wang, Xicheng X; Zhao, Zhengyi Z; Li, Jian J; Shen, Lin L
Publication Date: 2021
Variant appearance in text: TSC2: 500G>T; W167L
PubMed Link:
34858840
Variant Present in the following documents:
Table_2.xlsx, sheet 1
View BVdb publication page
A Chinese family affected by lynch syndrome caused by MLH1 mutation.
Bmc Medical Genetics
Jia, Shuqin S; Zhang, Meng M; Sun, Yu Y; Yan, Hai H; Zhao, Fangping F; Li, Ziyu Z; Ji, Jiafu J
Publication Date: 2018-06-22
Variant appearance in text: TSC2: 500G>T
PubMed Link:
29929473
Variant Present in the following documents:
Main text
12881_2018_605_MOESM2_ESM.xlsx, sheet 1
12881_2018_605_MOESM3_ESM.xlsx, sheet 6
12881_2018_605_MOESM3_ESM.xlsx, sheet 3
12881_2018_605_MOESM2_ESM.xlsx, sheet 2
12881_2018_605_MOESM3_ESM.xlsx, sheet 1
12881_2018_605_MOESM3_ESM.xlsx, sheet 2
12881_2018_Article_605.pdf
View BVdb publication page