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PTEN c.277_278delinsGC ;(p.H93A)
Variant ID: 10-89692793-CA-GC
NM_000314.4(
PTEN
):c.277_278delinsGC;(p.H93A)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Annotating cancer variants and anti-cancer therapeutics in reactome.
Cancers
Milacic, Marija M; Haw, Robin R; Rothfels, Karen K; Wu, Guanming G; Croft, David D; Hermjakob, Henning H; D'Eustachio, Peter P; Stein, Lincoln L
Publication Date: 2012-11-08
Variant appearance in text: PTEN: H93A
PubMed Link:
24213504
Variant Present in the following documents:
Main text
cancers-04-01180.pdf
View BVdb publication page
A mutant form of PTEN linked to autism.
Protein Science : A Publication Of The Protein Society
Redfern, Roberta E RE; Daou, Marie-Claire MC; Li, Li L; Munson, Mary M; Gericke, Arne A; Ross, Alonzo H AH
Publication Date: 2010-10
Variant appearance in text: PTEN: H93A
PubMed Link:
20718038
Variant Present in the following documents:
Main text
View BVdb publication page
Cell polarity proteins: common targets for tumorigenic human viruses.
Oncogene
Javier, R T RT
Publication Date: 2008-11-24
Variant appearance in text: PTEN: H93A
PubMed Link:
19029943
Variant Present in the following documents:
Main text
View BVdb publication page
PTEN induces cell cycle arrest by decreasing the level and nuclear localization of cyclin D1.
Molecular And Cellular Biology
Radu, Aurelian A; Neubauer, Valerie V; Akagi, Tsuyoshi T; Hanafusa, Hidesaburo H; Georgescu, Maria-Magdalena MM
Publication Date: 2003-09
Variant appearance in text: PTEN: H93A
PubMed Link:
12917336
Variant Present in the following documents:
Main text
View BVdb publication page
5' phospholipid phosphatase SHIP-2 causes protein kinase B inactivation and cell cycle arrest in glioblastoma cells.
Molecular And Cellular Biology
Taylor, V V; Wong, M M; Brandts, C C; Reilly, L L; Dean, N M NM; Cowsert, L M LM; Moodie, S S; Stokoe, D D
Publication Date: 2000-09
Variant appearance in text: PTEN: H93A
PubMed Link:
10958682
Variant Present in the following documents:
Main text
View BVdb publication page