TSC2 c.1204G>A ;(p.G402R)

Variant ID: 16-2111956-G-A

NM_000548.3(TSC2):c.1204G>A;(p.G402R)

This variant was identified in 3 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: G402R
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Frontiers In Endocrinology
Ma, Xiaosen X; Ling, Chao C; Zhao, Meng M; Wang, Fen F; Cui, Yunying Y; Wen, Jin J; Ji, Zhigang Z; Zhang, Caili C; Chen, Shi S; Tong, Anli A; Li, Yuxiu Y
Publication Date: 2022

Variant appearance in text: TSC2: G402R; rs771561593
PubMed Link: 35966080
Variant Present in the following documents:
  • Table_1.xlsx, sheet 5
View BVdb publication page



Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function - Implications for Potential Therapies.

Frontiers In Synaptic Neuroscience
Striessnig, Jörg J
Publication Date: 2021

Variant appearance in text: TSC2: G402R
PubMed Link: 33746731
Variant Present in the following documents:
  • Main text
View BVdb publication page