PTEN c.583T>C ;(p.F195L)

Variant ID: 10-89711965-T-C

NM_000314.4(PTEN):c.583T>C;(p.F195L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: PTEN: F195L
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
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Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: PTEN: F195L
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 1
View BVdb publication page



Genetic diversity in melanoma metastases from a patient with xeroderma pigmentosum.

The Journal Of Investigative Dermatology
Wang, Yun Y; Tan, Xiao Hui XH; DiGiovanna, John J JJ; Lee, Chyi-Chia Richard CC; Stern, Jere B JB; Raffeld, Mark M; Jaffe, Elaine S ES; Kraemer, Kenneth H KH
Publication Date: 2010-04

Variant appearance in text: PTEN: Phe195Leu
PubMed Link: 19956187
Variant Present in the following documents:
  • Main text
View BVdb publication page