TSC2 c.4541C>A ;(p.S1514*)

Variant ID: 16-2134999-C-A

NM_000548.3(TSC2):c.4541C>A;(p.S1514*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
Publication Date: 2018-05-14

Variant appearance in text: TSC2: S1514*
PubMed Link: 29657128
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: TSC2: S1514*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page



The determinants of head and neck cancer: Unmasking the PI3K pathway mutations.

Journal Of Carcinogenesis & Mutagenesis
Giudice, Fernanda S FS; Squarize, Cristiane H CH
Publication Date: 2013-08-02

Variant appearance in text: TSC2: S1514*
PubMed Link: 25126449
Variant Present in the following documents:
  • Main text
View BVdb publication page



Frequent mutation of the PI3K pathway in head and neck cancer defines predictive biomarkers.

Cancer Discovery
Lui, Vivian W Y VW; Hedberg, Matthew L ML; Li, Hua H; Vangara, Bhavana S BS; Pendleton, Kelsey K; Zeng, Yan Y; Lu, Yiling Y; Zhang, Qiuhong Q; Du, Yu Y; Gilbert, Breean R BR; Freilino, Maria M; Sauerwein, Sam S; Peyser, Noah D ND; Xiao, Dong D; Diergaarde, Brenda B; Wang, Lin L; Chiosea, Simion S; Seethala, Raja R; Johnson, Jonas T JT; Kim, Seungwon S; Duvvuri, Umamaheswar U; Ferris, Robert L RL; Romkes, Marjorie M; Nukui, Tomoko T; Kwok-Shing Ng, Patrick P; Garraway, Levi A LA; Hammerman, Peter S PS; Mills, Gordon B GB; Grandis, Jennifer R JR
Publication Date: 2013-07

Variant appearance in text: TSC2: S1514*
PubMed Link: 23619167
Variant Present in the following documents:
  • Main text
View BVdb publication page