F8 c.3538G>A ;(p.V1180I)

Variant ID: X-154158527-C-T

NM_000132.3(F8):c.3538G>A;(p.V1180I)

This variant was identified in 3 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: F8: V1180I; rs782113486
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_8.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: F8: V1180I
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Characterization of aberrant splicing of von Willebrand factor in von Willebrand disease: an underrecognized mechanism.

Blood
Hawke, Lindsey L; Bowman, Mackenzie L ML; Poon, Man-Chiu MC; Scully, Mary-Frances MF; Rivard, Georges-Etienne GE; James, Paula D PD
Publication Date: 2016-07-28

Variant appearance in text: FVIII: 3538G>A
PubMed Link: 27317792
Variant Present in the following documents:
  • Main text
View BVdb publication page