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PTEN c.139_140delinsGC ;(p.R47A)
Variant ID: 10-89653841-AG-GC
NM_000314.4(
PTEN
):c.139_140delinsGC;(p.R47A)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Furin extracellularly cleaves secreted PTENα/β to generate C-terminal fragment with a tumor-suppressive role.
Cell Death & Disease
Zhang, Cheng C; Ma, Hong-Ming HM; Dong, Shuang-Shu SS; Zhang, Na N; He, Ping P; Ge, Meng-Kai MK; Xia, Li L; Yu, Jian-Xiu JX; Xia, Qiang Q; Chen, Guo-Qiang GQ; Shen, Shao-Ming SM
Publication Date: 2022-06-06
Variant appearance in text: PTEN: R47A
PubMed Link:
35668069
Variant Present in the following documents:
Main text
41419_2022_Article_4988.pdf
View BVdb publication page
Single-molecule imaging of PI(4,5)P2 and PTEN in vitro reveals a positive feedback mechanism for PTEN membrane binding.
Communications Biology
Yoshioka, Daisuke D; Fukushima, Seiya S; Koteishi, Hiroyasu H; Okuno, Daichi D; Ide, Toru T; Matsuoka, Satomi S; Ueda, Masahiro M
Publication Date: 2020-02-28
Variant appearance in text: PTEN: R47A
PubMed Link:
32111929
Variant Present in the following documents:
Main text
42003_2020_818_MOESM3_ESM.xlsx, sheet 5
42003_2020_818_MOESM7_ESM.xlsx, sheet 1
42003_2020_818_MOESM1_ESM.pdf
42003_2020_Article_818.pdf
View BVdb publication page
PTEN stabilizes TOP2A and regulates the DNA decatenation.
Scientific Reports
Kang, Xi X; Song, Chang C; Du, Xiao X; Zhang, Cong C; Liu, Yu Y; Liang, Ling L; He, Jinxue J; Lamb, Kristy K; Shen, Wen H WH; Yin, Yuxin Y
Publication Date: 2015-12-10
Variant appearance in text: PTEN: R47A
PubMed Link:
26657567
Variant Present in the following documents:
Main text
srep17873.pdf
View BVdb publication page
Phospholipid-binding sites of phosphatase and tensin homolog (PTEN): exploring the mechanism of phosphatidylinositol 4,5-bisphosphate activation.
The Journal Of Biological Chemistry
Wei, Yang Y; Stec, Boguslaw B; Redfield, Alfred G AG; Weerapana, Eranthie E; Roberts, Mary F MF
Publication Date: 2015-01-16
Variant appearance in text: PTEN: R47A
PubMed Link:
25429968
Variant Present in the following documents:
Main text
View BVdb publication page