TSC2 c.4219G>A ;(p.V1407M)

Variant ID: 16-2134442-G-A

NM_000548.3(TSC2):c.4219G>A;(p.V1407M)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: TSC2: V1407M
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



The molecular characteristics of high-grade gastroenteropancreatic neuroendocrine neoplasms.

Endocrine-Related Cancer
Venizelos, Andreas A; Elvebakken, Hege H; Perren, Aurel A; Nikolaienko, Oleksii O; Deng, Wei W; Lothe, Inger Marie B IMB; Couvelard, Anne A; Hjortland, Geir Olav GO; Sundlöv, Anna A; Svensson, Johanna J; Garresori, Harrish H; Kersten, Christian C; Hofsli, Eva E; Detlefsen, Sönke S; Krogh, Merete M; Sorbye, Halfdan H; Knappskog, Stian S
Publication Date: 2021-11-11

Variant appearance in text: TSC2: V1407M
PubMed Link: 34647903
Variant Present in the following documents:
  • supplementary_table_4.xlsx, sheet 2
View BVdb publication page



Integrative -omics and HLA-ligandomics analysis to identify novel drug targets for ccRCC immunotherapy.

Genome Medicine
Reustle, Anna A; Di Marco, Moreno M; Meyerhoff, Carolin C; Nelde, Annika A; Walz, Juliane S JS; Winter, Stefan S; Kandabarau, Siahei S; Büttner, Florian F; Haag, Mathias M; Backert, Linus L; Kowalewski, Daniel J DJ; Rausch, Steffen S; Hennenlotter, Jörg J; Stühler, Viktoria V; Scharpf, Marcus M; Fend, Falko F; Stenzl, Arnulf A; Rammensee, Hans-Georg HG; Bedke, Jens J; Stevanović, Stefan S; Schwab, Matthias M; Schaeffeler, Elke E
Publication Date: 2020-03-30

Variant appearance in text: rs45517332
PubMed Link: 32228647
Variant Present in the following documents:
  • 13073_2020_731_MOESM2_ESM.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: V1407M
PubMed Link: 29296220
Variant Present in the following documents:
  • oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page