TSC2 c.187C>T ;(p.Q63*)

Variant ID: 16-2100449-C-T

NM_000548.3(TSC2):c.187C>T;(p.Q63*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Single cell spatial analysis reveals the topology of immunomodulatory purinergic signaling in glioblastoma.

Nature Communications
Coy, Shannon S; Wang, Shu S; Stopka, Sylwia A SA; Lin, Jia-Ren JR; Yapp, Clarence C; Ritch, Cecily C CC; Salhi, Lisa L; Baker, Gregory J GJ; Rashid, Rumana R; Baquer, Gerard G; Regan, Michael M; Khadka, Prasidda P; Cole, Kristina A KA; Hwang, Jaeho J; Wen, Patrick Y PY; Bandopadhayay, Pratiti P; Santi, Mariarita M; De Raedt, Thomas T; Ligon, Keith L KL; Agar, Nathalie Y R NYR; Sorger, Peter K PK; Touat, Mehdi M; Santagata, Sandro S
Publication Date: 2022-08-16

Variant appearance in text: TSC2: Q63*
PubMed Link: 35973991
Variant Present in the following documents:
  • 41467_2022_32430_MOESM17_ESM.xlsx, sheet 31
View BVdb publication page



Pharmacogenetics of hepatocellular carcinoma and cholangiocarcinoma.

Cancer Drug Resistance (Alhambra, Calif.)
Alonso-Peña, Marta M; Sanchez-Martin, Anabel A; Sanchon-Sanchez, Paula P; Soto-Muñiz, Meraris M; Espinosa-Escudero, Ricardo R; Marin, Jose J G JJG
Publication Date: 2019

Variant appearance in text: TSC2: Gln63*
PubMed Link: 35582588
Variant Present in the following documents:
  • Main text
View BVdb publication page



A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.

Nature Communications
Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ
Publication Date: 2021-02-10

Variant appearance in text: TSC2: 187C>T; Q63*; rs397515039
PubMed Link: 33568653
Variant Present in the following documents:
  • 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Leiomyoma with bizarre nuclei: a morphological, immunohistochemical and molecular analysis of 31 cases.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Bennett, Jennifer A JA; Weigelt, Britta B; Chiang, Sarah S; Selenica, Pier P; Chen, Ying-Bei YB; Bialik, Ann A; Bi, Rui R; Schultheis, Anne M AM; Lim, Raymond S RS; Ng, Charlotte K Y CKY; Morales-Oyarvide, Vicente V; Young, Robert H RH; Reuter, Victor E VE; Soslow, Robert A RA; Oliva, Esther E
Publication Date: 2017-10

Variant appearance in text: TSC2: Gln63*
PubMed Link: 28664937
Variant Present in the following documents:
  • NIHMS883213-supplement-3.xlsx, sheet 1
View BVdb publication page



TSC1/2 mutations define a molecular subset of HCC with aggressive behaviour and treatment implication.

Gut
Ho, Daniel W H DWH; Chan, Lo K LK; Chiu, Yung T YT; Xu, Iris M J IMJ; Poon, Ronnie T P RTP; Cheung, Tan T TT; Tang, Chung N CN; Tang, Victor W L VWL; Lo, Irene L O ILO; Lam, Polly W Y PWY; Yau, Derek T W DTW; Li, Miao X MX; Wong, Chun M CM; Ng, Irene O L IOL
Publication Date: 2017-08

Variant appearance in text: TSC2: Q63X
PubMed Link: 27974549
Variant Present in the following documents:
  • Main text
  • gutjnl-2016-312734.pdf
View BVdb publication page



Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.

European Journal Of Human Genetics : Ejhg
Kwiatkowski, David J DJ; Palmer, Michael R MR; Jozwiak, Sergiusz S; Bissler, John J; Franz, David D; Segal, Scott S; Chen, David D; Sampson, Julian R JR
Publication Date: 2015-12

Variant appearance in text: TSC2: Gln63*
PubMed Link: 25782670
Variant Present in the following documents:
  • ejhg201547x1.xls, sheet 1
View BVdb publication page