TSC2 c.1457A>T ;(p.N486I)

Variant ID: 16-2114286-A-T

NM_000548.3(TSC2):c.1457A>T;(p.N486I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: TSC2: N486I
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Acquired Resistance of EGFR-Mutant Lung Cancer to a T790M-Specific EGFR Inhibitor: Emergence of a Third Mutation (C797S) in the EGFR Tyrosine Kinase Domain.

Jama Oncology
Yu, Helena A HA; Tian, Shaozhou K SK; Drilon, Alexander E AE; Borsu, Laetitia L; Riely, Gregory J GJ; Arcila, Maria E ME; Ladanyi, Marc M
Publication Date: 2015-10

Variant appearance in text: TSC2: N486I
PubMed Link: 26181354
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Molecular Autism
Bahl, Samira S; Chiang, Colby C; Beauchamp, Roberta L RL; Neale, Benjamin M BM; Daly, Mark J MJ; Gusella, James F JF; Talkowski, Michael E ME; Ramesh, Vijaya V
Publication Date: 2013-03-20

Variant appearance in text: TSC2: N486I
PubMed Link: 23514105
Variant Present in the following documents:
  • 2040-2392-4-5-S5.xls, sheet 1
View BVdb publication page