PTEN c.1010T>C ;(p.F337S)

Variant ID: 10-89720859-T-C

NM_000314.4(PTEN):c.1010T>C;(p.F337S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk.

Plos One
Bishop, Madison R MR; Huskey, Anna L W ALW; Hetzel, John J; Merner, Nancy D ND
Publication Date: 2019

Variant appearance in text: PTEN: 1010T>C
PubMed Link: 31415627
Variant Present in the following documents:
  • pone.0220929.pdf
View BVdb publication page



Conformational stability and catalytic activity of PTEN variants linked to cancers and autism spectrum disorders.

Biochemistry
Johnston, Sean B SB; Raines, Ronald T RT
Publication Date: 2015-02-24

Variant appearance in text: PTEN: F337S
PubMed Link: 25647146
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.

Journal Of Medical Genetics
Lachlan, K L KL; Lucassen, A M AM; Bunyan, D D; Temple, I K IK
Publication Date: 2007-09

Variant appearance in text: PTEN: Phe337Ser
PubMed Link: 17526800
Variant Present in the following documents:
  • Main text
View BVdb publication page