PTEN c.385_386delinsCA ;(p.G129Q)

Variant ID: 10-89692901-GG-CA

NM_000314.4(PTEN):c.385_386delinsCA;(p.G129Q)

This variant was identified in 2 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: G129Q
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.

Cancer Research
He, Xin X; Arrotta, Nicholas N; Radhakrishnan, Deepa D; Wang, Yu Y; Romigh, Todd T; Eng, Charis C
Publication Date: 2013-05-15

Variant appearance in text: PTEN: G129Q
PubMed Link: 23475934
Variant Present in the following documents:
  • Main text
View BVdb publication page