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PTEN c.337_338delinsGC ;(p.S113A)
Variant ID: 10-89692853-AG-GC
NM_000314.4(
PTEN
):c.337_338delinsGC;(p.S113A)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.
Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09
Variant appearance in text: PTEN: S113A
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
ATM-mediated PTEN phosphorylation promotes PTEN nuclear translocation and autophagy in response to DNA-damaging agents in cancer cells.
Autophagy
Chen, Jing-Hong JH; Zhang, Peng P; Chen, Wen-Dan WD; Li, Dan-Dan DD; Wu, Xiao-Qi XQ; Deng, Rong R; Jiao, Lin L; Li, Xuan X; Ji, Jiao J; Feng, Gong-Kan GK; Zeng, Yi-Xin YX; Jiang, Jian-Wei JW; Zhu, Xiao-Feng XF
Publication Date: 2015
Variant appearance in text: PTEN: S113A
PubMed Link:
25701194
Variant Present in the following documents:
Main text
View BVdb publication page
Glycogen Synthase Kinase 3 influences cell motility and chemotaxis by regulating PI3K membrane localization in Dictyostelium.
Development, Growth & Differentiation
Sun, Tong T; Kim, Bohye B; Kim, Lou W LW
Publication Date: 2013-10
Variant appearance in text: PTEN: S113A
PubMed Link:
24102085
Variant Present in the following documents:
Main text
View BVdb publication page