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.




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