SI c.1177G>C ;(p.E393Q)

Variant ID: 3-164777057-C-G

NM_001041.3(SI):c.1177G>C;(p.E393Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


PKD-dependent PARP12-catalyzed mono-ADP-ribosylation of Golgin-97 is required for E-cadherin transport from Golgi to plasma membrane.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Grimaldi, Giovanna G; Filograna, Angela A; Schembri, Laura L; Lo Monte, Matteo M; Di Martino, Rosaria R; Pirozzi, Marinella M; Spano, Daniela D; Beccari, Andrea R AR; Parashuraman, Seetharaman S; Luini, Alberto A; Valente, Carmen C; Corda, Daniela D
Publication Date: 2022-01-04

Variant appearance in text: SI: E393Q
PubMed Link: 34969853
Variant Present in the following documents:
  • Main text
  • pnas.2026494119.sapp.pdf
  • pnas.202026494.pdf
View BVdb publication page



PKD-dependent PARP12-catalyzed mono-ADP-ribosylation of Golgin-97 is required for E-cadherin transport from Golgi to plasma membrane.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Grimaldi, Giovanna G; Filograna, Angela A; Schembri, Laura L; Lo Monte, Matteo M; Di Martino, Rosaria R; Pirozzi, Marinella M; Spano, Daniela D; Beccari, Andrea R AR; Parashuraman, Seetharaman S; Luini, Alberto A; Valente, Carmen C; Corda, Daniela D
Publication Date: 2022-01-04

Variant appearance in text: SI: E393Q
PubMed Link: 34969853
Variant Present in the following documents:
  • Main text
  • pnas.2026494119.sapp.pdf
  • pnas.202026494.pdf
View BVdb publication page



Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

Nature Genetics
Dulak, Austin M AM; Stojanov, Petar P; Peng, Shouyong S; Lawrence, Michael S MS; Fox, Cameron C; Stewart, Chip C; Bandla, Santhoshi S; Imamura, Yu Y; Schumacher, Steven E SE; Shefler, Erica E; McKenna, Aaron A; Carter, Scott L SL; Cibulskis, Kristian K; Sivachenko, Andrey A; Saksena, Gordon G; Voet, Douglas D; Ramos, Alex H AH; Auclair, Daniel D; Thompson, Kristin K; Sougnez, Carrie C; Onofrio, Robert C RC; Guiducci, Candace C; Beroukhim, Rameen R; Zhou, Zhongren Z; Lin, Lin L; Lin, Jules J; Reddy, Rishindra R; Chang, Andrew A; Landrenau, Rodney R; Pennathur, Arjun A; Ogino, Shuji S; Luketich, James D JD; Golub, Todd R TR; Gabriel, Stacey B SB; Lander, Eric S ES; Beer, David G DG; Godfrey, Tony E TE; Getz, Gad G; Bass, Adam J AJ
Publication Date: 2013-05

Variant appearance in text: SI: 1177G>C; E393Q
PubMed Link: 23525077
Variant Present in the following documents:
  • NIHMS474888-supplement-6.xlsx, sheet 1
View BVdb publication page