TSC2 c.1074G>A ;(p.W358*)

Variant ID: 16-2110769-G-A

NM_000548.3(TSC2):c.1074G>A;(p.W358*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Circulating Lymphangioleiomyomatosis Tumor Cells With Loss of Heterozygosity in the TSC2 Gene Show Increased Aldehyde Dehydrogenase Activity.

Chest
Pacheco-Rodríguez, Gustavo G; Steagall, Wendy K WK; Samsel, Leigh L; Dagur, Pradeep K PK; McCoy, J Philip JP; Tunc, Ilker I; Pirooznia, Mehdi M; Wang, Ji-An JA; Darling, Thomas N TN; Moss, Joel J
Publication Date: 2019-08

Variant appearance in text: TSC2: 1074G>A
PubMed Link: 31034819
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dichotomy of Genetic Abnormalities in PEComas With Therapeutic Implications.

The American Journal Of Surgical Pathology
Agaram, Narasimhan P NP; Sung, Yun-Shao YS; Zhang, Lei L; Chen, Chun-Liang CL; Chen, Hsiao-Wei HW; Singer, Samuel S; Dickson, Mark A MA; Berger, Michael F MF; Antonescu, Cristina R CR
Publication Date: 2015-06

Variant appearance in text: TSC2: W358X
PubMed Link: 25651471
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.

Human Molecular Genetics
Tyburczy, Magdalena E ME; Wang, Ji-An JA; Li, Shaowei S; Thangapazham, Rajesh R; Chekaluk, Yvonne Y; Moss, Joel J; Kwiatkowski, David J DJ; Darling, Thomas N TN
Publication Date: 2014-04-15

Variant appearance in text: TSC2: 1074G>A; W358*
PubMed Link: 24271014
Variant Present in the following documents:
  • Main text
View BVdb publication page