PTEN c.870_871insT ;(p.E291*)

Variant ID: 10-89720719-A-AT

NM_000314.4(PTEN):c.870_871insT;(p.E291*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Functional impact and targetability of PI3KCA, GNAS, and PTEN mutations in a spindle cell rhabdomyosarcoma with MYOD1 L122R mutation.

Cold Spring Harbor Molecular Case Studies
Choo, Florence F; Odinstov, Igor I; Nusser, Kevin K; Nicholson, Katelyn S KS; Davis, Lara L; Corless, Christopher L CL; Stork, Linda L; Somwar, Romel R; Ladanyi, Marc M; Davis, Jessica L JL; Davare, Monika A MA
Publication Date: 2022-01

Variant appearance in text: PTEN: E291fs
PubMed Link: 35012940
Variant Present in the following documents:
  • Main text
  • MCS006140Cho.pdf
View BVdb publication page



Functional impact and targetability of PI3KCA, GNAS, and PTEN mutations in a spindle cell rhabdomyosarcoma with MYOD1 L122R mutation.

Cold Spring Harbor Molecular Case Studies
Choo, Florence F; Odintsov, Igor I; Nusser, Kevin K; Nicholson, Katelyn S KS; Davis, Lara L; Corless, Christopher L CL; Stork, Linda L; Somwar, Romel R; Ladanyi, Marc M; Davis, Jessica L JL; Davare, Monika A MA
Publication Date: 2022-01

Variant appearance in text: PTEN: E291fs
PubMed Link: 35012940
Variant Present in the following documents:
  • Main text
  • MCS006140Cho.pdf
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: N/A
PubMed Link: 25326804
Variant Present in the following documents:
View BVdb publication page