TSC2 c.5043C>G ;(p.N1681K)

Variant ID: 16-2137917-C-G

NM_000548.3(TSC2):c.5043C>G;(p.N1681K)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


De novo mutation of the TSC2 gene in patient with Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) Phenotype: a case report.

Annals Of Medicine And Surgery (2012)
Triono, Agung A; Herini, Elisabeth S ES; Iskandar, Kristy K; Hadiyanto, Marissa L ML; Diantika, Kania K; Wijayanti, Veronica W VW; Gunadi,
Publication Date: 2023-05

Variant appearance in text: TSC2: 5043C>G
PubMed Link: 37228977
Variant Present in the following documents:
  • Main text
  • ms9-85-2102.pdf
View BVdb publication page



Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.

Scientific Reports
Rosengren, Thomas T; Nanhoe, Santoesha S; de Almeida, Luis Gustavo Dufner LGD; Schönewolf-Greulich, Bitten B; Larsen, Lasse Jonsgaard LJ; Hey, Caroline Amalie Brunbjerg CAB; Dunø, Morten M; Ek, Jakob J; Risom, Lotte L; Nellist, Mark M; Møller, Lisbeth Birk LB
Publication Date: 2020-06-18

Variant appearance in text: TSC2: 5043C>G; Asn1681Lys
PubMed Link: 32555378
Variant Present in the following documents:
  • Main text
  • 41598_2020_66588_MOESM1_ESM.pdf
  • 41598_2020_Article_66588.pdf
View BVdb publication page



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: N1681K
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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: N1681K
PubMed Link: 23514105
Variant Present in the following documents:
  • 2040-2392-4-5-S5.xls, sheet 1
View BVdb publication page