PTEN c.837C>G ;(p.F279L)

Variant ID: 10-89720686-C-G

NM_000314.4(PTEN):c.837C>G;(p.F279L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.

Nature Communications
Post, Kathryn L KL; Belmadani, Manuel M; Ganguly, Payel P; Meili, Fabian F; Dingwall, Riki R; McDiarmid, Troy A TA; Meyers, Warren M WM; Herrington, Caitlin C; Young, Barry P BP; Callaghan, Daniel B DB; Rogic, Sanja S; Edwards, Matthew M; Niciforovic, Ana A; Cau, Alessandro A; Rankin, Catharine H CH; O'Connor, Timothy P TP; Bamji, Shernaz X SX; Loewen, Christopher J R CJR; Allan, Douglas W DW; Pavlidis, Paul P; Haas, Kurt K
Publication Date: 2020-04-29

Variant appearance in text: PTEN: F279L
PubMed Link: 32350270
Variant Present in the following documents:
  • 41467_2020_Article_15943.pdf
View BVdb publication page