APOB c.2245G>T ;(p.D749Y)

Variant ID: 2-21247996-C-A

NM_000384.2(APOB):c.2245G>T;(p.D749Y)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: APOB: D749Y
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



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: APOB: 2245G>T; Asp749Tyr
PubMed Link: 34738089
Variant Present in the following documents:
  • NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1
View BVdb publication page



Rare Pathogenic Variants in Mitochondrial and Inflammation-Associated Genes May Lead to Inflammatory Cardiomyopathy in Chagas Disease.

Journal Of Clinical Immunology
Ouarhache, Maryem M; Marquet, Sandrine S; Frade, Amanda Farage AF; Ferreira, Ariela Mota AM; Ianni, Barbara B; Almeida, Rafael Ribeiro RR; Nunes, Joao Paulo Silva JPS; Ferreira, Ludmila Rodrigues Pinto LRP; Rigaud, Vagner Oliveira-Carvalho VO; Cândido, Darlan D; Mady, Charles C; Zaniratto, Ricardo Costa Fernandes RCF; Buck, Paula P; Torres, Magali M; Gallardo, Frederic F; Andrieux, Pauline P; Bydlowsky, Sergio S; Levy, Debora D; Abel, Laurent L; Cardoso, Clareci Silva CS; Santos-Junior, Omar Ribeiro OR; Oliveira, Lea Campos LC; Oliveira, Claudia Di Lorenzo CDL; Nunes, Maria Do Carmo MDC; Cobat, Aurelie A; Kalil, Jorge J; Ribeiro, Antonio Luiz AL; Sabino, Ester Cerdeira EC; Cunha-Neto, Edecio E; Chevillard, Christophe C
Publication Date: 2021-07

Variant appearance in text: APOB: D749Y
PubMed Link: 33660144
Variant Present in the following documents:
  • Main text
  • 10875_2021_Article_1000.pdf
  • 10875_2021_1000_MOESM1_ESM.pdf
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: APOB: D749Y
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page