PTEN c.1184A>C ;(p.D395A)

Variant ID: 10-89725201-A-C

NM_000314.4(PTEN):c.1184A>C;(p.D395A)

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:

Transcription- and phosphorylation-dependent control of a functional interplay between XBP1s and PINK1 governs mitophagy and potentially impacts Parkinson disease pathophysiology.

Autophagy
El Manaa, Wejdane W; Duplan, Eric E; Goiran, Thomas T; Lauritzen, Inger I; Vaillant Beuchot, Loan L; Lacas-Gervais, Sandra S; Morais, Vanessa Alexandra VA; You, Han H; Qi, Ling L; Salazar, Mario M; Ozcan, Umut U; Chami, Mounia M; Checler, Frédéric F; Alves da Costa, Cristine C
Publication Date: 2021-12

Variant appearance in text: PTEN: D395A
PubMed Link: 34030589
Variant Present in the following documents:
  • Main text
View BVdb publication page


Transcription- and phosphorylation-dependent control of a functional interplay between XBP1s and PINK1 governs mitophagy and potentially impacts Parkinson disease pathophysiology.

Autophagy
El Manaa, Wejdane W; Duplan, Eric E; Goiran, Thomas T; Lauritzen, Inger I; Vaillant Beuchot, Loan L; Lacas-Gervais, Sandra S; Morais, Vanessa Alexandra VA; You, Han H; Qi, Ling L; Salazar, Mario M; Ozcan, Umut U; Chami, Mounia M; Checler, Frédéric F; Alves da Costa, Cristine C
Publication Date: 2021-05-24

Variant appearance in text: PTEN: D395A
PubMed Link: 34030589
Variant Present in the following documents:
  • Main text
View BVdb publication page


Precise definition of PTEN C-terminal epitopes and its implications in clinical oncology.

Npj Precision Oncology
Mingo, Janire J; Luna, Sandra S; Gaafar, Ayman A; Nunes-Xavier, Caroline E CE; Torices, Leire L; Mosteiro, Lorena L; Ruiz, Rebeca R; Guerra, Isabel I; Llarena, Roberto R; Angulo, Javier C JC; López, José I JI; Pulido, Rafael R
Publication Date: 2019

Variant appearance in text: PTEN: 1184A>C; D395A
PubMed Link: 30993208
Variant Present in the following documents:
  • 41698_2019_83_MOESM1_ESM.pdf
  • 41698_2019_Article_83.pdf
View BVdb publication page


Focal adhesion kinase regulation of mechanotransduction and its impact on endothelial cell functions.

Microvascular Research
Zebda, Noureddine N; Dubrovskyi, Oleksii O; Birukov, Konstantin G KG
Publication Date: 2012-01

Variant appearance in text: PTEN: D395A
PubMed Link: 21741394
Variant Present in the following documents:
  • Main text
View BVdb publication page