PTEN c.731C>T ;(p.P244L)

Variant ID: 10-89717706-C-T

NM_000314.4(PTEN):c.731C>T;(p.P244L)

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: P244L
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 2
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 1
View BVdb publication page



Oncogenic IL7R gain-of-function mutations in childhood T-cell acute lymphoblastic leukemia.

Nature Genetics
Zenatti, Priscila P PP; Ribeiro, Daniel D; Li, Wenqing W; Zuurbier, Linda L; Silva, Milene C MC; Paganin, Maddalena M; Tritapoe, Julia J; Hixon, Julie A JA; Silveira, André B AB; Cardoso, Bruno A BA; Sarmento, Leonor M LM; Correia, Nádia N; Toribio, Maria L ML; Kobarg, Jörg J; Horstmann, Martin M; Pieters, Rob R; Brandalise, Silvia R SR; Ferrando, Adolfo A AA; Meijerink, Jules P JP; Durum, Scott K SK; Yunes, J Andrés JA; Barata, João T JT
Publication Date: 2011-09-04

Variant appearance in text: PTEN: 731C>T
PubMed Link: 21892159
Variant Present in the following documents:
  • Main text
View BVdb publication page