TSC2 c.3224C>T ;(p.T1075I)

Variant ID: 16-2129369-C-T

NM_000548.3(TSC2):c.3224C>T;(p.T1075I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: TSC2: 3224C>T; T1075I
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
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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: T1075I
PubMed Link: 23514105
Variant Present in the following documents:
  • 2040-2392-4-5-S5.xls, sheet 1
View BVdb publication page



A reliable cell-based assay for testing unclassified TSC2 gene variants.

European Journal Of Human Genetics : Ejhg
Coevoets, Ricardo R; Arican, Sermin S; Hoogeveen-Westerveld, Marianne M; Simons, Erik E; van den Ouweland, Ans A; Halley, Dicky D; Nellist, Mark M
Publication Date: 2009-03

Variant appearance in text: TSC2: T1075I
PubMed Link: 18854862
Variant Present in the following documents:
  • Main text
View BVdb publication page