PTEN c.538T>C ;(p.Y180H)

Variant ID: 10-89711920-T-C

NM_000314.4(PTEN):c.538T>C;(p.Y180H)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


MAPS: machine-assisted phenotype scoring enables rapid functional assessment of genetic variants by high-content microscopy.

Bmc Bioinformatics
Chao, Jesse T JT; Roskelley, Calvin D CD; Loewen, Christopher J R CJR
Publication Date: 2021-04-20

Variant appearance in text: PTEN: Y180H
PubMed Link: 33879063
Variant Present in the following documents:
  • Main text
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: Y180H
PubMed Link: 32350270
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_15943.pdf
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: Y180H
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page



Antigenic and Genotypic Similarity between Primary Glioblastomas and Their Derived Neurospheres.

Journal Of Oncology
Caldera, Valentina V; Mellai, Marta M; Annovazzi, Laura L; Piazzi, Angela A; Lanotte, Michele M; Cassoni, Paola P; Schiffer, Davide D
Publication Date: 2011

Variant appearance in text: PTEN: 538T>C; Y180H
PubMed Link: 21869887
Variant Present in the following documents:
  • Main text
  • JO2011-314962.pdf
View BVdb publication page