TSC2 c.188A>T ;(p.Q63L)

Variant ID: 16-2100450-A-T

NM_000548.3(TSC2):c.188A>T;(p.Q63L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine
Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS
Publication Date: 2019-12

Variant appearance in text: TSC2: 188A>T; Q63L
PubMed Link: 31768066
Variant Present in the following documents:
  • NIHMS1541314-supplement-1541314_SourceDataExtFig8.xlsx, sheet 1
View BVdb publication page



In vivo identification of GTPase interactors by mitochondrial relocalization and proximity biotinylation.

Elife
Gillingham, Alison K AK; Bertram, Jessie J; Begum, Farida F; Munro, Sean S
Publication Date: 2019-07-11

Variant appearance in text: TSC2: Q63L
PubMed Link: 31294692
Variant Present in the following documents:
  • elife-45916.pdf
View BVdb publication page



eIF4A inactivates TORC1 in response to amino acid starvation.

The Embo Journal
Tsokanos, Foivos-Filippos FF; Albert, Marie-Astrid MA; Demetriades, Constantinos C; Spirohn, Kerstin K; Boutros, Michael M; Teleman, Aurelio A AA
Publication Date: 2016-05-17

Variant appearance in text: TSC2: Q63L
PubMed Link: 26988032
Variant Present in the following documents:
  • Main text
  • EMBJ-35-1058.pdf
View BVdb publication page



RhoA modulates signaling through the mechanistic target of rapamycin complex 1 (mTORC1) in mammalian cells.

Cellular Signalling
Gordon, Bradley S BS; Kazi, Abid A AA; Coleman, Catherine S CS; Dennis, Michael D MD; Chau, Vincent V; Jefferson, Leonard S LS; Kimball, Scot R SR
Publication Date: 2014-03

Variant appearance in text: TSC2: Q63L
PubMed Link: 24316235
Variant Present in the following documents:
  • Main text
View BVdb publication page



LKB1 tumor suppressor regulates AMP kinase/mTOR-independent cell growth and proliferation via the phosphorylation of Yap.

Oncogene
Nguyen, H B HB; Babcock, J T JT; Wells, C D CD; Quilliam, L A LA
Publication Date: 2013-08-29

Variant appearance in text: TSC2: Q63L
PubMed Link: 23027127
Variant Present in the following documents:
  • Main text
View BVdb publication page