PTEN c.801G>T ;(p.K267N)

Variant ID: 10-89717776-G-T

NM_000314.4(PTEN):c.801G>T;(p.K267N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


De novo mutations in folate-related genes associated with common developmental disorders.

Computational And Structural Biotechnology Journal
Luo, Tengfei T; Li, Kuokuo K; Ling, Zhengbao Z; Zhao, Guihu G; Li, Bin B; Wang, Zheng Z; Wang, Xiaomeng X; Han, Ying Y; Xia, Lu L; Zhang, Yi Y; Zhou, Qiao Q; Fang, Zhenghuan Z; Wang, Yijing Y; Chen, Qian Q; Zhou, Xun X; Pan, Hongxu H; Zhao, Yuwen Y; Wang, Yige Y; Dong, Lijie L; Huang, Yuanfeng Y; Hu, Zhengmao Z; Pan, Qian Q; Xia, Kun K; Li, Jinchen J
Publication Date: 2021

Variant appearance in text: PTEN: 801G>T; K267N
PubMed Link: 33777337
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Genetic Profiling of Advanced Melanoma: Candidate Mutations for Predicting Sensitivity and Resistance to Targeted Therapy.

Targeted Oncology
Olbryt, Magdalena M; Pigłowski, Wojciech W; Rajczykowski, Marcin M; Pfeifer, Aleksandra A; Student, Sebastian S; Fiszer-Kierzkowska, Anna A
Publication Date: 2020-02

Variant appearance in text: PTEN: 801G>T
PubMed Link: 31980996
Variant Present in the following documents:
  • 11523_2020_695_MOESM1_ESM.pdf
View BVdb publication page



Nuclear Excluded Autism-Associated Phosphatase and Tensin Homolog Mutations Dysregulate Neuronal Growth.

Biological Psychiatry
Fricano-Kugler, Catherine J CJ; Getz, Stephanie A SA; Williams, Michael R MR; Zurawel, Ashley A AA; DeSpenza, Tyrone T; Frazel, Paul W PW; Li, Meijie M; O'Malley, Alistair J AJ; Moen, Erika L EL; Luikart, Bryan W BW
Publication Date: 2018-08-15

Variant appearance in text: PTEN: K267N
PubMed Link: 29373119
Variant Present in the following documents:
  • Main text
View BVdb publication page