PC c.284C>A ;(p.A95D)

Variant ID: 11-66639195-G-T

NM_001040716.1(PC):c.284C>A;(p.A95D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Impact of deleterious variants in other genes beyond BRCA1/2 detected in breast/ovarian and pancreatic cancer patients by NGS-based multi-gene panel testing: looking over the hedge.

Esmo Open
Bono, M M; Fanale, D D; Incorvaia, L L; Cancelliere, D D; Fiorino, A A; Calò, V V; Dimino, A A; Filorizzo, C C; Corsini, L R LR; Brando, C C; Madonia, G G; Cucinella, A A; Scalia, R R; Barraco, N N; Guadagni, F F; Pedone, E E; Badalamenti, G G; Russo, A A; Bazan, V V
Publication Date: 2021-08

Variant appearance in text: PC: 284C>A
PubMed Link: 34371384
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



PARL partitions the lipid transfer protein STARD7 between the cytosol and mitochondria.

The Embo Journal
Saita, Shotaro S; Tatsuta, Takashi T; Lampe, Philipp A PA; König, Tim T; Ohba, Yohsuke Y; Langer, Thomas T
Publication Date: 2018-02-15

Variant appearance in text: PC: A95D
PubMed Link: 29301859
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Qatar genome: a population-specific tool for precision medicine in the Middle East.

Human Genome Variation
Fakhro, Khalid A KA; Staudt, Michelle R MR; Ramstetter, Monica Denise MD; Robay, Amal A; Malek, Joel A JA; Badii, Ramin R; Al-Marri, Ajayeb Al-Nabet AA; Abi Khalil, Charbel C; Al-Shakaki, Alya A; Chidiac, Omar O; Stadler, Dora D; Zirie, Mahmoud M; Jayyousi, Amin A; Salit, Jacqueline J; Mezey, Jason G JG; Crystal, Ronald G RG; Rodriguez-Flores, Juan L JL
Publication Date: 2016

Variant appearance in text: PC: 284C>A
PubMed Link: 27408750
Variant Present in the following documents:
View BVdb publication page