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PTEN c.139_140inv ;(p.R47L)
Variant ID: 10-89653841-AG-CT
NM_000314.4(
PTEN
):c.139_140inv;(p.R47L)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: R47L
PubMed Link:
25429968
Variant Present in the following documents:
Main text
View BVdb publication page
Understanding the stereospecific interactions of 3-deoxyphosphatidylinositol derivatives with the PTEN phosphatase domain.
Journal Of Molecular Graphics & Modelling
Wang, Qin Q; Wei, Yang Y; Mottamal, Madhusoodanan M; Roberts, Mary F MF; Krilov, Goran G
Publication Date: 2010-08-24
Variant appearance in text: PTEN: R47L
PubMed Link:
20538496
Variant Present in the following documents:
Main text
View BVdb publication page