PTEN c.1192A>T ;(p.T398S)

Variant ID: 10-89725209-A-T

NM_000314.4(PTEN):c.1192A>T;(p.T398S)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: PTEN: 1192A>T; Thr398Ser
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Metastatic Melanoma Patient-Derived Xenografts Respond to MDM2 Inhibition as a Single Agent or in Combination with BRAF/MEK Inhibition.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Shattuck-Brandt, Rebecca L RL; Chen, Sheau-Chiann SC; Murray, Emily E; Johnson, Christopher Andrew CA; Crandall, Holly H; O'Neal, Jamye F JF; Al-Rohil, Rami Nayef RN; Nebhan, Caroline A CA; Bharti, Vijaya V; Dahlman, Kimberly B KB; Ayers, Gregory D GD; Yan, Chi C; Kelley, Mark C MC; Kauffmann, Rondi M RM; Hooks, Mary M; Grau, Ana A; Johnson, Douglas B DB; Vilgelm, Anna E AE; Richmond, Ann A
Publication Date: 2020-07-15

Variant appearance in text: PTEN: T398S
PubMed Link: 32234759
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01

Variant appearance in text: PTEN: 1192A>T; T398S
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
View BVdb publication page



Precise Immunodetection of PTEN Protein in Human Neoplasia.

Cold Spring Harbor Perspectives In Medicine
Pulido, Rafael R; Mingo, Janire J; Gaafar, Ayman A; Nunes-Xavier, Caroline E CE; Luna, Sandra S; Torices, Leire L; Angulo, Javier C JC; López, José I JI
Publication Date: 2019-12-02

Variant appearance in text: PTEN: T398S
PubMed Link: 31501265
Variant Present in the following documents:
  • Main text
View BVdb publication page



Precise definition of PTEN C-terminal epitopes and its implications in clinical oncology.

Npj Precision Oncology
Mingo, Janire J; Luna, Sandra S; Gaafar, Ayman A; Nunes-Xavier, Caroline E CE; Torices, Leire L; Mosteiro, Lorena L; Ruiz, Rebeca R; Guerra, Isabel I; Llarena, Roberto R; Angulo, Javier C JC; López, José I JI; Pulido, Rafael R
Publication Date: 2019

Variant appearance in text: PTEN: T398S
PubMed Link: 30993208
Variant Present in the following documents:
  • Main text
  • 41698_2019_Article_83.pdf
  • 41698_2019_83_MOESM1_ESM.pdf
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: PTEN: T398S
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page