TG c.3533C>T ;(p.P1178L)

Variant ID: 8-133913697-C-T

NM_003235.4(TG):c.3533C>T;(p.P1178L)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Kras oncogene ablation prevents resistance in advanced lung adenocarcinoma.

The Journal Of Clinical Investigation
Salmón, Marina M; Álvarez-Díaz, Ruth R; Fustero-Torre, Coral C; Brehey, Oksana O; Lechuga, Carmen G CG; Sanclemente, Manuel M; Fernández-García, Fernando F; López-García, Alejandra A; Martín-Guijarro, María Carmen MC; Rodríguez-Perales, Sandra S; Bousquet-Mur, Emily E; Morales-Cacho, Lucía L; Mulero, Francisca F; Al-Shahrour, Fátima F; Martínez, Lola L; Domínguez, Orlando O; Caleiras, Eduardo E; Ortega, Sagrario S; Guerra, Carmen C; Musteanu, Monica M; Drosten, Matthias M; Barbacid, Mariano M
Publication Date: 2023-03-16

Variant appearance in text: TG: 3533C>T
PubMed Link: 36928090
Variant Present in the following documents:
  • jci-133-164413-s193.xlsx, sheet 1
View BVdb publication page



Genomic characterization between strains selected for death-feigning duration for avoiding attack of a beetle.

Scientific Reports
Tanaka, Keisuke K; Sasaki, Ken K; Matsumura, Kentarou K; Yajima, Shunsuke S; Miyatake, Takahisa T
Publication Date: 2021-11-08

Variant appearance in text: TG: 3533C>T
PubMed Link: 34750398
Variant Present in the following documents:
  • 41598_2021_987_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: TG: 3533C>T
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.

Genome Medicine
Cao, Ye Y; Tokita, Mari J MJ; Chen, Edward S ES; Ghosh, Rajarshi R; Chen, Tiansheng T; Feng, Yanming Y; Gorman, Elizabeth E; Gibellini, Federica F; Ward, Patricia A PA; Braxton, Alicia A; Wang, Xia X; Meng, Linyan L; Xiao, Rui R; Bi, Weimin W; Xia, Fan F; Eng, Christine M CM; Yang, Yaping Y; Gambin, Tomasz T; Shaw, Chad C; Liu, Pengfei P; Stankiewicz, Pawel P
Publication Date: 2019-07-26

Variant appearance in text: TG: 3533C>T; P1178L
PubMed Link: 31349857
Variant Present in the following documents:
  • Main text
View BVdb publication page



Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling.

Diabetologia
Raffan, E E; Soos, M A MA; Rocha, N N; Tuthill, A A; Thomsen, A R AR; Hyden, C S CS; Gregory, J W JW; Hindmarsh, P P; Dattani, M M; Cochran, E E; Al Kaabi, J J; Gorden, P P; Barroso, I I; Morling, N N; O'Rahilly, S S; Semple, R K RK
Publication Date: 2011-05

Variant appearance in text: TG: Pro1178Leu
PubMed Link: 21318406
Variant Present in the following documents:
  • Main text
  • 125_2011_Article_2066.pdf
View BVdb publication page



Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis.

The Journal Of Clinical Investigation
Semple, Robert K RK; Sleigh, Alison A; Murgatroyd, Peter R PR; Adams, Claire A CA; Bluck, Les L; Jackson, Sarah S; Vottero, Alessandra A; Kanabar, Dipak D; Charlton-Menys, Valentine V; Durrington, Paul P; Soos, Maria A MA; Carpenter, T Adrian TA; Lomas, David J DJ; Cochran, Elaine K EK; Gorden, Phillip P; O'Rahilly, Stephen S; Savage, David B DB
Publication Date: 2009-02

Variant appearance in text: TG: P1178L
PubMed Link: 19164855
Variant Present in the following documents:
  • Main text
View BVdb publication page