PTEN c.362C>T ;(p.A121V)

Variant ID: 10-89692878-C-T

NM_000314.4(PTEN):c.362C>T;(p.A121V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: PTEN: A121V
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.

American Journal Of Human Genetics
Mighell, Taylor L TL; Evans-Dutson, Sara S; O'Roak, Brian J BJ
Publication Date: 2018-05-03

Variant appearance in text: PTEN: Ala121Val
PubMed Link: 29706350
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: A121V
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page