PTEN c.750T>G ;(p.C250W)

Variant ID: 10-89717725-T-G

NM_000314.4(PTEN):c.750T>G;(p.C250W)

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: C250W
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 2
  • pone.0196434.s001.xlsx, sheet 1
View BVdb publication page



The impact of NOTCH1, FBW7 and PTEN mutations on prognosis and downstream signaling in pediatric T-cell acute lymphoblastic leukemia: a report from the Children's Oncology Group.

Leukemia
Larson Gedman, A A; Chen, Q Q; Kugel Desmoulin, S S; Ge, Y Y; LaFiura, K K; Haska, C L CL; Cherian, C C; Devidas, M M; Linda, S B SB; Taub, J W JW; Matherly, L H LH
Publication Date: 2009-08

Variant appearance in text: PTEN: C250W
PubMed Link: 19340001
Variant Present in the following documents:
  • Main text
  • nihms98506.pdf
View BVdb publication page