TSC2 c.3134C>T ;(p.S1045F)

Variant ID: 16-2129279-C-T

NM_000548.3(TSC2):c.3134C>T;(p.S1045F)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Profiling of 520 Candidate Genes in 50 Surgically Treated Chinese Small Cell Lung Cancer Patients.

Frontiers In Oncology
Yuan, Ting T; Wang, Xin X; Sun, Sijin S; Cao, Zheng Z; Feng, Xiaoli X; Gao, Yibo Y
Publication Date: 2021

Variant appearance in text: TSC2: 3134C>T; Ser1045Phe
PubMed Link: 34168983
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 3
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: TSC2: 3134C>T; S1045F
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.

Human Mutation
Dufner Almeida, Luiz G LG; Nanhoe, Santoesha S; Zonta, Andrea A; Hosseinzadeh, Mitra M; Kom-Gortat, Regina R; Elfferich, Peter P; Schaaf, Gerben G; Kenter, Annegien A; Kümmel, Daniel D; Migone, Nicola N; Povey, Sue S; Ekong, Rosemary R; Nellist, Mark M
Publication Date: 2020-04

Variant appearance in text: TSC2: 3134C>T; S1045F
PubMed Link: 31799751
Variant Present in the following documents:
  • Main text
  • HUMU-41-759.pdf
View BVdb publication page