PTEN c.695C>T ;(p.T232I)

Variant ID: 10-89717670-C-T

NM_000314.4(PTEN):c.695C>T;(p.T232I)

This variant was identified in 2 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: T232I
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 2
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 3
View BVdb publication page



Genetic factors predisposing to systemic lupus erythematosus and lupus nephritis.

Seminars In Nephrology
Ramos, Paula S PS; Brown, Elisabeth E EE; Kimberly, Robert P RP; Langefeld, Carl D CD
Publication Date: 2010-03

Variant appearance in text: PTEN: T232I
PubMed Link: 20347645
Variant Present in the following documents:
  • Main text
View BVdb publication page