PTEN c.391A>C ;(p.T131P)

Variant ID: 10-89692907-A-C

NM_000314.4(PTEN):c.391A>C;(p.T131P)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


MCP-1/CCR2 axis inhibition sensitizes the brain microenvironment against melanoma brain metastasis progression.

Jci Insight
Pozzi, Sabina S; Scomparin, Anna A; Ben-Shushan, Dikla D; Yeini, Eilam E; Ofek, Paula P; Nahmad, Alessio D AD; Soffer, Shelly S; Ionescu, Ariel A; Ruggiero, Antonella A; Barzel, Adi A; Brem, Henry H; Hyde, Thomas M TM; Barshack, Iris I; Sinha, Sanju S; Ruppin, Eytan E; Weiss, Tomer T; Madi, Asaf A; Perlson, Eran E; Slutsky, Inna I; Florindo, Helena F HF; Satchi-Fainaro, Ronit R
Publication Date: 2022-09-08

Variant appearance in text: PTEN: T131P
PubMed Link: 35980743
Variant Present in the following documents:
  • jciinsight-7-154804.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: PTEN: T131P
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Mismatch repair deficiency endows tumors with a unique mutation signature and sensitivity to DNA double-strand breaks.

Elife
Zhao, Hui H; Thienpont, Bernard B; Yesilyurt, Betül Tuba BT; Moisse, Matthieu M; Reumers, Joke J; Coenegrachts, Lieve L; Sagaert, Xavier X; Schrauwen, Stefanie S; Smeets, Dominiek D; Matthijs, Gert G; Aerts, Stein S; Cools, Jan J; Metcalf, Alex A; Spurdle, Amanda A; , ; Amant, Frederic F; Lambrechts, Diether D
Publication Date: 2014-08-01

Variant appearance in text: PTEN: T131P
PubMed Link: 25085081
Variant Present in the following documents:
  • elife02725s004.xlsx, sheet 16
View BVdb publication page



Genetic and clonal dissection of murine small cell lung carcinoma progression by genome sequencing.

Cell
McFadden, David G DG; Papagiannakopoulos, Thales T; Taylor-Weiner, Amaro A; Stewart, Chip C; Carter, Scott L SL; Cibulskis, Kristian K; Bhutkar, Arjun A; McKenna, Aaron A; Dooley, Alison A; Vernon, Amanda A; Sougnez, Carrie C; Malstrom, Scott S; Heimann, Megan M; Park, Jennifer J; Chen, Frances F; Farago, Anna F AF; Dayton, Talya T; Shefler, Erica E; Gabriel, Stacey S; Getz, Gad G; Jacks, Tyler T
Publication Date: 2014-03-13

Variant appearance in text: PTEN: T131P
PubMed Link: 24630729
Variant Present in the following documents:
  • Main text
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: T131P
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Methylation of the PTEN promoter defines low-grade gliomas and secondary glioblastoma.

Neuro-Oncology
Wiencke, John K JK; Zheng, Shichun S; Jelluma, Nanette N; Tihan, Tarik T; Vandenberg, Scott S; Tamgüney, Tanja T; Baumber, Rachel R; Parsons, Ramon R; Lamborn, Kathleen R KR; Berger, Mitchel S MS; Wrensch, Margaret R MR; Haas-Kogan, Daphne Adele DA; Stokoe, David D
Publication Date: 2007-07

Variant appearance in text: PTEN: T131P
PubMed Link: 17504928
Variant Present in the following documents:
  • Main text
View BVdb publication page