PTEN c.553C>T ;(p.H185Y)

Variant ID: 10-89711935-C-T

NM_000314.4(PTEN):c.553C>T;(p.H185Y)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The Application of Next-Generation Sequencing to Define Factors Related to Oral Cancer and Discover Novel Biomarkers.

Life (Basel, Switzerland)
Kim, Soyeon S; Lee, Joo Won JW; Park, Young-Seok YS
Publication Date: 2020-10-02

Variant appearance in text: PTEN: His185Tyr
PubMed Link: 33023080
Variant Present in the following documents:
  • Main text
  • life-10-00228.pdf
View BVdb publication page



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: H185Y
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 3
View BVdb publication page



Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing.

Molecular Cancer
Kovaleva, Valentina V; Geissler, Anna-Lena AL; Lutz, Lisa L; Fritsch, Ralph R; Makowiec, Frank F; Wiesemann, Sebastian S; Hopt, Ulrich T UT; Passlick, Bernward B; Werner, Martin M; Lassmann, Silke S
Publication Date: 2016-10-18

Variant appearance in text: PTEN: 553C>T; His185Tyr
PubMed Link: 27756406
Variant Present in the following documents:
  • Main text
  • 12943_2016_549_MOESM2_ESM.xlsx, sheet 1
  • 12943_2016_Article_549.pdf
View BVdb publication page