PC c.1081G>T ;(p.G361C)

Variant ID: 11-66633762-C-A

NM_001040716.1(PC):c.1081G>T;(p.G361C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: PC: G361C
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Suppressor mutations in Mecp2-null mice implicate the DNA damage response in Rett syndrome pathology.

Genome Research
Enikanolaiye, Adebola A; Ruston, Julie J; Zeng, Rong R; Taylor, Christine C; Schrock, Marijke M; Buchovecky, Christie M CM; Shendure, Jay J; Acar, Elif E; Justice, Monica J MJ
Publication Date: 2020-04

Variant appearance in text: PC: 1081G>T; G361C
PubMed Link: 32317254
Variant Present in the following documents:
  • 540.pdf
View BVdb publication page



Functional architecture of the inner pore of a voltage-gated Ca2+ channel.

The Journal Of General Physiology
Zhen, Xiao-Guang XG; Xie, Cheng C; Fitzmaurice, Aileen A; Schoonover, Carl E CE; Orenstein, Eleza T ET; Yang, Jian J
Publication Date: 2005-09

Variant appearance in text: PC: G361C
PubMed Link: 16129770
Variant Present in the following documents:
  • Main text
View BVdb publication page