PTEN c.674A>G ;(p.Y225C)

Variant ID: 10-89717649-A-G

NM_000314.4(PTEN):c.674A>G;(p.Y225C)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: Y225C
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page



Prevalence of somatic mutations in patients with aplastic anemia using peripheral blood cfDNA as compared with BM.

Leukemia
Albitar, A A; Townsley, D D; Ma, W W; De Dios, I I; Funari, V V; Young, N S NS; Albitar, M M
Publication Date: 2018-01

Variant appearance in text: PTEN: Tyr225Cys
PubMed Link: 28832022
Variant Present in the following documents:
  • Main text
  • leu2017271a.pdf
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: PTEN: Y225C
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



The determinants of head and neck cancer: Unmasking the PI3K pathway mutations.

Journal Of Carcinogenesis & Mutagenesis
Giudice, Fernanda S FS; Squarize, Cristiane H CH
Publication Date: 2013-08-02

Variant appearance in text: PTEN: Y225C
PubMed Link: 25126449
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: Y225C
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page