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TSC2 c.4099G>A ;(p.G1367S)
Variant ID: 16-2134322-G-A
NM_000548.3(
TSC2
):c.4099G>A;(p.G1367S)
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:
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: G1367S
PubMed Link:
29296220
Variant Present in the following documents:
oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page
Desmoplastic melanoma with sarcomatoid dedifferentiation.
The American Journal Of Surgical Pathology
Kiuru, Maija M; McDermott, Gregory G; Berger, Michael M; Halpern, Allan C AC; Busam, Klaus J KJ
Publication Date: 2014-06
Variant appearance in text: TSC2: G1367S
PubMed Link:
24618614
Variant Present in the following documents:
Main text
View BVdb publication page