CP c.2421T>G ;(p.I807M)

Variant ID: 3-148901257-A-C

NM_000096.3(CP):c.2421T>G;(p.I807M)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer
Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T
Publication Date: 2021-10

Variant appearance in text: CP: Ile807Met
PubMed Link: 34738089
Variant Present in the following documents:
  • NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1
View BVdb publication page



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: CP: I807M
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis.

Gastroenterology
Schneider, Alexander A; Larusch, Jessica J; Sun, Xiumei X; Aloe, Amy A; Lamb, Janette J; Hawes, Robert R; Cotton, Peter P; Brand, Randall E RE; Anderson, Michelle A MA; Money, Mary E ME; Banks, Peter A PA; Lewis, Michele D MD; Baillie, John J; Sherman, Stuart S; Disario, James J; Burton, Frank R FR; Gardner, Timothy B TB; Amann, Stephen T ST; Gelrud, Andres A; George, Ryan R; Rockacy, Matthew J MJ; Kassabian, Sirvart S; Martinson, Jeremy J; Slivka, Adam A; Yadav, Dhiraj D; Oruc, Nevin N; Barmada, M Michael MM; Frizzell, Raymond R; Whitcomb, David C DC
Publication Date: 2011-01

Variant appearance in text: CP: I807M
PubMed Link: 20977904
Variant Present in the following documents:
  • Main text
View BVdb publication page