PTEN c.1016C>A ;(p.P339Q)

Variant ID: 10-89720865-C-A

NM_000314.4(PTEN):c.1016C>A;(p.P339Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology
Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ
Publication Date: 2022-10-11

Variant appearance in text: PTEN: P339Q
PubMed Link: 36219477
Variant Present in the following documents:
  • PATH-259-56-s004.xlsx, sheet 2
  • PATH-259-56-s006.xlsx, sheet 2
View BVdb publication page



Eleven candidate susceptibility genes for common familial colorectal cancer.

Plos Genetics
Gylfe, Alexandra E AE; Katainen, Riku R; Kondelin, Johanna J; Tanskanen, Tomas T; Cajuso, Tatiana T; Hänninen, Ulrika U; Taipale, Jussi J; Taipale, Minna M; Renkonen-Sinisalo, Laura L; Järvinen, Heikki H; Mecklin, Jukka-Pekka JP; Kilpivaara, Outi O; Pitkänen, Esa E; Vahteristo, Pia P; Tuupanen, Sari S; Karhu, Auli A; Aaltonen, Lauri A LA
Publication Date: 2013

Variant appearance in text: PTEN: 1016C>A
PubMed Link: 24146633
Variant Present in the following documents:
  • Main text
View BVdb publication page