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PTEN c.1151A>T ;(p.D384V)
Variant ID: 10-89725168-A-T
NM_000314.4(
PTEN
):c.1151A>T;(p.D384V)
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:
The Loss of Nuclear PTEN Increases Tumorigenesis in a Preclinical Mouse Model for Hepatocellular Carcinoma.
Iscience
Kato, Takashi T; Yamada, Tatsuya T; Nakamura, Hideki H; Igarashi, Atsushi A; Anders, Robert A RA; Sesaki, Hiromi H; Iijima, Miho M
Publication Date: 2020-10-23
Variant appearance in text: PTEN: D384V
PubMed Link:
33083717
Variant Present in the following documents:
Main text
mmc1.pdf
main.pdf
View BVdb publication page
Nuclear PTEN deficiency causes microcephaly with decreased neuronal soma size and increased seizure susceptibility.
The Journal Of Biological Chemistry
Igarashi, Atsushi A; Itoh, Kie K; Yamada, Tatsuya T; Adachi, Yoshihiro Y; Kato, Takashi T; Murata, Daisuke D; Sesaki, Hiromi H; Iijima, Miho M
Publication Date: 2018-06-15
Variant appearance in text: PTEN: D384V
PubMed Link:
29735527
Variant Present in the following documents:
Main text
View BVdb publication page