TSC2 c.1351_1353delinsTGT ;(p.R451C)

Variant ID: 16-2112591-AGA-TGT

NM_000548.3(TSC2):c.1351_1353delinsTGT;(p.R451C)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Loss of Tsc1 from striatal direct pathway neurons impairs endocannabinoid-LTD and enhances motor routine learning.

Cell Reports
Benthall, Katelyn N KN; Cording, Katherine R KR; Agopyan-Miu, Alexander H C W AHCW; Wong, Corinna D CD; Chen, Emily Y EY; Bateup, Helen S HS
Publication Date: 2021-08-10

Variant appearance in text: TSC2: R451C
PubMed Link: 34380034
Variant Present in the following documents:
  • Main text
  • nihms-1732333.pdf
View BVdb publication page



Sleep Duration in Mouse Models of Neurodevelopmental Disorders.

Brain Sciences
Saré, Rachel Michelle RM; Lemons, Abigail A; Song, Alex A; Smith, Carolyn Beebe CB
Publication Date: 2020-12-30

Variant appearance in text: TSC2: R451C
PubMed Link: 33396736
Variant Present in the following documents:
  • brainsci-11-00031.pdf
View BVdb publication page



Sleep as a translationally-relevant endpoint in studies of autism spectrum disorder (ASD).

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology
Missig, Galen G; McDougle, Christopher J CJ; Carlezon, William A WA
Publication Date: 2020-01

Variant appearance in text: TSC2: R451C
PubMed Link: 31060044
Variant Present in the following documents:
  • Main text
View BVdb publication page



GABARAPs dysfunction by autophagy deficiency in adolescent brain impairs GABAA receptor trafficking and social behavior.

Science Advances
Hui, Kelvin K KK; Takashima, Noriko N; Watanabe, Akiko A; Chater, Thomas E TE; Matsukawa, Hiroshi H; Nekooki-Machida, Yoko Y; Nilsson, Per P; Endo, Ryo R; Goda, Yukiko Y; Saido, Takaomi C TC; Yoshikawa, Takeo T; Tanaka, Motomasa M
Publication Date: 2019-04

Variant appearance in text: TSC2: R451C
PubMed Link: 30989111
Variant Present in the following documents:
  • aau8237.pdf
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Striatal Inhibition of MeCP2 or TSC1 Produces Sociability Deficits and Repetitive Behaviors.

Experimental Neurobiology
Lee, Yunjin Y; Kim, Hannah H; Han, Pyung-Lim PL
Publication Date: 2018-12

Variant appearance in text: TSC2: R451C
PubMed Link: 30636904
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

Molecular Genetics & Genomic Medicine
Kopp, Nathan D ND; Parrish, Phoebe C R PCR; Lugo, Michael M; Dougherty, Joseph D JD; Kozel, Beth A BA
Publication Date: 2018-09

Variant appearance in text: TSC2: R451C
PubMed Link: 30008175
Variant Present in the following documents:
  • MGG3-6-749-s004.xlsx, sheet 1
View BVdb publication page



LTD-like molecular pathways in developmental synaptic pruning.

Nature Neuroscience
Piochon, Claire C; Kano, Masanobu M; Hansel, Christian C
Publication Date: 2016-09-27

Variant appearance in text: TSC2: R451C
PubMed Link: 27669991
Variant Present in the following documents:
  • Main text
View BVdb publication page



GABAergic signaling as therapeutic target for autism spectrum disorders.

Frontiers In Pediatrics
Cellot, Giada G; Cherubini, Enrico E
Publication Date: 2014

Variant appearance in text: tuberin: R451C
PubMed Link: 25072038
Variant Present in the following documents:
  • Main text
  • fped-02-00070.pdf
View BVdb publication page



Genetic aspects of autism spectrum disorders: insights from animal models.

Frontiers In Cellular Neuroscience
Banerjee, Swati S; Riordan, Maeveen M; Bhat, Manzoor A MA
Publication Date: 2014

Variant appearance in text: TSC2: Arg451Cys
PubMed Link: 24605088
Variant Present in the following documents:
  • fncel-08-00058.pdf
View BVdb publication page



Dysregulation of group-I metabotropic glutamate (mGlu) receptor mediated signalling in disorders associated with Intellectual Disability and Autism.

Neuroscience And Biobehavioral Reviews
D'Antoni, Simona S; Spatuzza, Michela M; Bonaccorso, Carmela M CM; Musumeci, Sebastiano A SA; Ciranna, Lucia L; Nicoletti, Ferdinando F; Huber, Kimberly M KM; Catania, Maria Vincenza MV
Publication Date: 2014-10

Variant appearance in text: tuberin: R451C
PubMed Link: 24548786
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neuroligins provide molecular links between syndromic and nonsyndromic autism.

Science Signaling
Singh, Sandeep K SK; Eroglu, Cagla C
Publication Date: 2013-07-09

Variant appearance in text: TSC2: R451C
PubMed Link: 23838185
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lighting a path: genetic studies pinpoint neurodevelopmental mechanisms in autism and related disorders.

Dialogues In Clinical Neuroscience
Pescosolido, Matthew F MF; Yang, Unikora U; Sabbagh, Mark M; Morrow, Eric M EM
Publication Date: 2012-09

Variant appearance in text: TSC2: R451C
PubMed Link: 23226950
Variant Present in the following documents:
  • Main text
  • DialoguesClinNeurosci-14-239.pdf
View BVdb publication page



Alterations of GABAergic signaling in autism spectrum disorders.

Neural Plasticity
Pizzarelli, Rocco R; Cherubini, Enrico E
Publication Date: 2011

Variant appearance in text: tuberin: R451C
PubMed Link: 21766041
Variant Present in the following documents:
  • NP2011-297153.pdf
View BVdb publication page