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PTEN c.413A>T ;(p.Y138F)
Variant ID: 10-89692929-A-T
NM_000314.4(
PTEN
):c.413A>T;(p.Y138F)
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: Y138F
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
PTEN modulates EGFR late endocytic trafficking and degradation by dephosphorylating Rab7.
Nature Communications
Shinde, Swapnil Rohidas SR; Maddika, Subbareddy S
Publication Date: 2016-02-12
Variant appearance in text: PTEN: Y138F
PubMed Link:
26869029
Variant Present in the following documents:
Main text
ncomms10689.pdf
View BVdb publication page
Regulation of the PI3K pathway through a p85α monomer-homodimer equilibrium.
Elife
Cheung, Lydia W T LW; Walkiewicz, Katarzyna W KW; Besong, Tabot M D TM; Guo, Huifang H; Hawke, David H DH; Arold, Stefan T ST; Mills, Gordon B GB
Publication Date: 2015-07-29
Variant appearance in text: PTEN: Y138F
PubMed Link:
26222500
Variant Present in the following documents:
Main text
elife06866.pdf
View BVdb publication page