TSC2 c.4346C>T ;(p.S1449F)

Variant ID: 16-2134569-C-T

NM_000548.3(TSC2):c.4346C>T;(p.S1449F)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.

Blood
Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD
Publication Date: 2022-10-06

Variant appearance in text: TSC2: S1449F; rs759004251
PubMed Link: 36201743
Variant Present in the following documents:
  • BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6
View BVdb publication page



A comprehensive analysis of somatic alterations in Chinese ovarian cancer patients.

Scientific Reports
Zhang, Yingli Y; Shi, Xiaoliang X; Zhang, Jiejie J; Chen, Xi X; Zhang, Peng P; Liu, Angen A; Zhu, Tao T
Publication Date: 2021-01-11

Variant appearance in text: TSC2: 4346C>T; S1449F
PubMed Link: 33432021
Variant Present in the following documents:
  • 41598_2020_79694_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Integrative -omics and HLA-ligandomics analysis to identify novel drug targets for ccRCC immunotherapy.

Genome Medicine
Reustle, Anna A; Di Marco, Moreno M; Meyerhoff, Carolin C; Nelde, Annika A; Walz, Juliane S JS; Winter, Stefan S; Kandabarau, Siahei S; Büttner, Florian F; Haag, Mathias M; Backert, Linus L; Kowalewski, Daniel J DJ; Rausch, Steffen S; Hennenlotter, Jörg J; Stühler, Viktoria V; Scharpf, Marcus M; Fend, Falko F; Stenzl, Arnulf A; Rammensee, Hans-Georg HG; Bedke, Jens J; Stevanović, Stefan S; Schwab, Matthias M; Schaeffeler, Elke E
Publication Date: 2020-03-30

Variant appearance in text: rs759004251
PubMed Link: 32228647
Variant Present in the following documents:
  • 13073_2020_731_MOESM2_ESM.pdf
View BVdb publication page



The functional landscape of the human phosphoproteome.

Nature Biotechnology
Ochoa, David D; Jarnuczak, Andrew F AF; Viéitez, Cristina C; Gehre, Maja M; Soucheray, Margaret M; Mateus, André A; Kleefeldt, Askar A AA; Hill, Anthony A; Garcia-Alonso, Luz L; Stein, Frank F; Krogan, Nevan J NJ; Savitski, Mikhail M MM; Swaney, Danielle L DL; Vizcaíno, Juan A JA; Noh, Kyung-Min KM; Beltrao, Pedro P
Publication Date: 2020-03

Variant appearance in text: TSC2: 4346C>T; Ser1449Phe
PubMed Link: 31819260
Variant Present in the following documents:
  • EMS84831-supplement-Table_S5.xlsx, sheet 1
View BVdb publication page