TSC2 c.2092A>T ;(p.K698*)

Variant ID: 16-2121930-A-T

NM_000548.3(TSC2):c.2092A>T;(p.K698*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


TSC2 epigenetic defect in primary LAM cells. Evidence of an anchorage-independent survival.

Journal Of Cellular And Molecular Medicine
Lesma, Elena E; Ancona, Silvia S; Sirchia, Silvia M SM; Orpianesi, Emanuela E; Grande, Vera V; Colapietro, Patrizia P; Chiaramonte, Eloisa E; Di Giulio, Anna Maria AM; Gorio, Alfredo A
Publication Date: 2014-05

Variant appearance in text: TSC2: K698X
PubMed Link: 24606538
Variant Present in the following documents:
  • Main text
  • jcmm0018-0766.pdf
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Lymphangioleiomyomatosis and TSC2-/- cells.

Lymphatic Research And Biology
Darling, Thomas N TN; Pacheco-Rodriguez, Gustavo G; Gorio, Alfredo A; Lesma, Elena E; Walker, Cheryl C; Moss, Joel J
Publication Date: 2010-03

Variant appearance in text: TSC2: K698X
PubMed Link: 20235888
Variant Present in the following documents:
  • Main text
View BVdb publication page



Anti-EGFR antibody efficiently and specifically inhibits human TSC2-/- smooth muscle cell proliferation. Possible treatment options for TSC and LAM.

Plos One
Lesma, Elena E; Grande, Vera V; Ancona, Silvia S; Carelli, Stephana S; Di Giulio, Anna Maria AM; Gorio, Alfredo A
Publication Date: 2008

Variant appearance in text: TSC2: K698X
PubMed Link: 18958173
Variant Present in the following documents:
  • Main text
  • pone.0003558.pdf
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Isolation and growth of smooth muscle-like cells derived from tuberous sclerosis complex-2 human renal angiomyolipoma: epidermal growth factor is the required growth factor.

The American Journal Of Pathology
Lesma, Elena E; Grande, Vera V; Carelli, Stephana S; Brancaccio, Diego D; Canevini, Maria Paola MP; Alfano, Rosa Maria RM; Coggi, Guido G; Di Giulio, Anna Maria AM; Gorio, Alfredo A
Publication Date: 2005-10

Variant appearance in text: tuberin: K698X
PubMed Link: 16192644
Variant Present in the following documents:
  • Main text
View BVdb publication page