MTOR c.5553C>G ;(p.S1851R)

Variant ID: 1-11190646-G-C

NM_004958.3(MTOR):c.5553C>G;(p.S1851R)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Zika Virus Congenital Syndrome and MTOR gene variants: insights from a family of dizygotic twins.

Heliyon
de O da Silva, Luciana Reboredo LR; Oliveira, Pablo P; Sardi, Silvia S; Soares, Gubio G; Bandeira, Antônio Carlos AC; Costa, Ryan Dos Santos RDS; Rafaels, Nicholas N; Campbell, Monica M; Brunetti, Tonya T; Crooks, Kristy K; Daya, Michelle M; Teixeira, Maria Glória MG; Carneiro, Valdirene Leão VL; Barnes, Kathleen K; Figueiredo, Camila A CA
Publication Date: 2021-04

Variant appearance in text: rs2275527
PubMed Link: 33997407
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs2275527
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08

Variant appearance in text: MTOR: S1851R
PubMed Link: 29296220
Variant Present in the following documents:
  • oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page



Immunometabolic Pathways in BCG-Induced Trained Immunity.

Cell Reports
Arts, Rob J W RJW; Carvalho, Agostinho A; La Rocca, Claudia C; Palma, Carla C; Rodrigues, Fernando F; Silvestre, Ricardo R; Kleinnijenhuis, Johanneke J; Lachmandas, Ekta E; Gonçalves, Luís G LG; Belinha, Ana A; Cunha, Cristina C; Oosting, Marije M; Joosten, Leo A B LAB; Matarese, Giuseppe G; van Crevel, Reinout R; Netea, Mihai G MG
Publication Date: 2016-12-06

Variant appearance in text: rs2275527
PubMed Link: 27926861
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.pdf
View BVdb publication page



Absence of somatic mutations of the mTOR gene in differentiated thyroid cancer.

Meta Gene
Murugan, Avaniyapuram Kannan AK; Humudh, Eman A EA; Qasem, Ebtesam E; Al-Hindi, Hindi H; Almohanna, Mai M; Hassan, Zeinab Korany ZK; Alzahrani, Ali S AS
Publication Date: 2015-12

Variant appearance in text: rs2275527
PubMed Link: 26504747
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in healthy oldest-old.

Plos One
Halaschek-Wiener, Julius J; Amirabbasi-Beik, Mahsa M; Monfared, Nasim N; Pieczyk, Markus M; Sailer, Christian C; Kollar, Anita A; Thomas, Ruth R; Agalaridis, Georgios G; Yamada, So S; Oliveira, Lisa L; Collins, Jennifer A JA; Meneilly, Graydon G; Marra, Marco A MA; Madden, Kenneth M KM; Le, Nhu D ND; Connors, Joseph M JM; Brooks-Wilson, Angela R AR
Publication Date: 2009-08-14

Variant appearance in text: rs2275527
PubMed Link: 19680556
Variant Present in the following documents:
  • pone.0006641.s001.xls, sheet 1
View BVdb publication page