PTEN c.685T>A ;(p.S229T)

Variant ID: 10-89717660-T-A

NM_000314.4(PTEN):c.685T>A;(p.S229T)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022

Variant appearance in text: rs587781998
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 6
View BVdb publication page



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: S229T
PubMed Link: 32350270
Variant Present in the following documents:
  • 41467_2020_Article_15943.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: PTEN: 685T>A; Ser229Thr
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



ROCK inhibitor Y-27632 suppresses dissociation-induced apoptosis of murine prostate stem/progenitor cells and increases their cloning efficiency.

Plos One
Zhang, Li L; Valdez, Joseph M JM; Zhang, Boyu B; Wei, Lei L; Chang, Jiang J; Xin, Li L
Publication Date: 2011-03-28

Variant appearance in text: PTEN: Ser229Thr
PubMed Link: 21464902
Variant Present in the following documents:
  • pone.0018271.pdf
View BVdb publication page