PTEN c.1004G>T ;(p.R335L)

Variant ID: 10-89720853-G-T

NM_000314.4(PTEN):c.1004G>T;(p.R335L)

This variant was identified in 13 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: PTEN: R335L
PubMed Link: 36561320
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
  • Table2.xlsx, sheet 6
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: PTEN: R335L
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.

Scientific Reports
Khoruddin, Nurul Ain NA; Noorizhab, Mohd NurFakhruzzaman MN; Teh, Lay Kek LK; Mohd Yusof, Farida Zuraina FZ; Salleh, Mohd Zaki MZ
Publication Date: 2021-08-09

Variant appearance in text: rs1085308040
PubMed Link: 34373545
Variant Present in the following documents:
  • 41598_2021_95618_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity.

Journal For Immunotherapy Of Cancer
Hong, Tae Hee TH; Cha, Hongui H; Shim, Joon Ho JH; Lee, Boram B; Chung, Jongsuk J; Lee, Chung C; Kim, Nayoung K D NKD; Choi, Yoon-La YL; Hwang, Soohyun S; Lee, Yoomi Y; Park, Sehhoon S; Jung, Hyun Ae HA; Kim, Ji-Yeon JY; Park, Yeon Hee YH; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Lee, Se-Hoon SH; Park, Woong-Yang WY
Publication Date: 2020-10

Variant appearance in text: PTEN: R335L
PubMed Link: 33077514
Variant Present in the following documents:
  • jitc-2020-001199supp002.pdf
View BVdb publication page



Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas.

Oncotarget
Porkka, Noora K NK; Olkinuora, Alisa A; Kuopio, Teijo T; Ahtiainen, Maarit M; Eldfors, Samuli S; Almusa, Henrikki H; Mecklin, Jukka-Pekka JP; Peltomäki, Päivi P
Publication Date: 2020-04-07

Variant appearance in text: PTEN: 1004G>T; Arg335Leu
PubMed Link: 32292574
Variant Present in the following documents:
  • oncotarget-11-1244-s005.xlsx, sheet 1
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: PTEN: R335L
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Hidden association of Cowden syndrome, PTEN mutation and meningioma frequency.

Oncoscience
Yakubov, Eduard E; Ghoochani, Ali A; Buslei, Rolf R; Buchfelder, Michael M; Eyüpoglu, Ilker Y IY; Savaskan, Nicolai N
Publication Date: 2016

Variant appearance in text: PTEN: 1004G>T
PubMed Link: 27489861
Variant Present in the following documents:
  • oncoscience-03-149-s001.pdf
View BVdb publication page



Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

Journal Of Medical Genetics
Spinelli, Laura L; Black, Fiona M FM; Berg, Jonathan N JN; Eickholt, Britta J BJ; Leslie, Nicholas R NR
Publication Date: 2015-02

Variant appearance in text: PTEN: R335L
PubMed Link: 25527629
Variant Present in the following documents:
  • jmedgenet-2014-102803-s1.pdf
View BVdb publication page



The determinants of head and neck cancer: Unmasking the PI3K pathway mutations.

Journal Of Carcinogenesis & Mutagenesis
Giudice, Fernanda S FS; Squarize, Cristiane H CH
Publication Date: 2013-08-02

Variant appearance in text: PTEN: R335L
PubMed Link: 25126449
Variant Present in the following documents:
  • Main text
View BVdb publication page



Subcellular targeting and dynamic regulation of PTEN: implications for neuronal cells and neurological disorders.

Frontiers In Molecular Neuroscience
Kreis, Patricia P; Leondaritis, George G; Lieberam, Ivo I; Eickholt, Britta J BJ
Publication Date: 2014

Variant appearance in text: PTEN: R335L
PubMed Link: 24744697
Variant Present in the following documents:
  • Main text
  • fnmol-07-00023.pdf
View BVdb publication page



Interactions of phosphatase and tensin homologue (PTEN) proteins with phosphatidylinositol phosphates: insights from molecular dynamics simulations of PTEN and voltage sensitive phosphatase.

Biochemistry
Kalli, Antreas C AC; Devaney, Isabel I; Sansom, Mark S P MS
Publication Date: 2014-03-25

Variant appearance in text: PTEN: R335L
PubMed Link: 24588644
Variant Present in the following documents:
  • Main text
  • bi5000299.pdf
View BVdb publication page



Defining the membrane-associated state of the PTEN tumor suppressor protein.

Biophysical Journal
Lumb, Craig N CN; Sansom, Mark S P MS
Publication Date: 2013-02-05

Variant appearance in text: PTEN: R335L
PubMed Link: 23442912
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.

Japanese Journal Of Cancer Research : Gann
Sawada, T T; Hamano, N N; Satoh, H H; Okada, T T; Takeda, Y Y; Mabuchi, H H
Publication Date: 2000-07

Variant appearance in text: MMAC1: R335L
PubMed Link: 10920277
Variant Present in the following documents:
  • Main text
  • CAS-91-700.pdf
View BVdb publication page