TSC2 c.4928A>T ;(p.N1643I)

Variant ID: 16-2136811-A-T

NM_000548.3(TSC2):c.4928A>T;(p.N1643I)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Architecture of the Tuberous Sclerosis Protein Complex.

Journal Of Molecular Biology
Ramlaul, Kailash K; Fu, Wencheng W; Li, Hua H; de Martin Garrido, Natàlia N; He, Lin L; Trivedi, Manjari M; Cui, Wei W; Aylett, Christopher H S CHS; Wu, Geng G
Publication Date: 2021-01-22

Variant appearance in text: TSC2: N1643I
PubMed Link: 33307091
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



The genomic landscape of tuberous sclerosis complex.

Nature Communications
Martin, Katie R KR; Zhou, Wanding W; Bowman, Megan J MJ; Shih, Juliann J; Au, Kit Sing KS; Dittenhafer-Reed, Kristin E KE; Sisson, Kellie A KA; Koeman, Julie J; Weisenberger, Daniel J DJ; Cottingham, Sandra L SL; DeRoos, Steven T ST; Devinsky, Orrin O; Winn, Mary E ME; Cherniack, Andrew D AD; Shen, Hui H; Northrup, Hope H; Krueger, Darcy A DA; MacKeigan, Jeffrey P JP
Publication Date: 2017-06-15

Variant appearance in text: TSC2: 4928A>T; Asn1643Ile
PubMed Link: 28643795
Variant Present in the following documents:
  • ncomms15816-s3.xlsx, sheet 1
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: N1643I
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



IκB kinase complex (IKK) triggers detachment-induced autophagy in mammary epithelial cells independently of the PI3K-AKT-MTORC1 pathway.

Autophagy
Chen, Nan N; Debnath, Jayanta J
Publication Date: 2013-08

Variant appearance in text: TSC2: N1643I
PubMed Link: 23778976
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: N1643I
PubMed Link: 23514105
Variant Present in the following documents:
  • 2040-2392-4-5-S5.xls, sheet 1
View BVdb publication page