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PTEN c.748_749delinsGC ;(p.C250A)
Variant ID: 10-89717723-TG-GC
NM_000314.4(
PTEN
):c.748_749delinsGC;(p.C250A)
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:
Thyroid cancers of follicular origin in a genomic light: in-depth overview of common and unique molecular marker candidates.
Molecular Cancer
Pstrąg, Natalia N; Ziemnicka, Katarzyna K; Bluyssen, Hans H; Wesoły, Joanna J
Publication Date: 2018-08-08
Variant appearance in text: PTEN: C250A
PubMed Link:
30089490
Variant Present in the following documents:
Main text
12943_2018_Article_866.pdf
View BVdb publication page
NO signaling and S-nitrosylation regulate PTEN inhibition in neurodegeneration.
Molecular Neurodegeneration
Kwak, Young-Don YD; Ma, Tao T; Diao, Shiyong S; Zhang, Xue X; Chen, Yaomin Y; Hsu, Janet J; Lipton, Stuart A SA; Masliah, Eliezer E; Xu, Huaxi H; Liao, Francesca-Fang FF
Publication Date: 2010-11-10
Variant appearance in text: PTEN: C250A
PubMed Link:
21067594
Variant Present in the following documents:
Main text
1750-1326-5-49.pdf
View BVdb publication page
Biosynthetic enzyme GMP synthetase cooperates with ubiquitin-specific protease 7 in transcriptional regulation of ecdysteroid target genes.
Molecular And Cellular Biology
van der Knaap, Jan A JA; Kozhevnikova, Elena E; Langenberg, Karin K; Moshkin, Yuri M YM; Verrijzer, C Peter CP
Publication Date: 2010-02
Variant appearance in text: PTEN: C250A
PubMed Link:
19995917
Variant Present in the following documents:
Main text
View BVdb publication page