FBN1 c.56C>T ;(p.S19F)

Variant ID: 15-48936911-G-A

NM_000138.4(FBN1):c.56C>T;(p.S19F)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: FBN1: 56C>T; Ser19Phe
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Genomic and GWAS analyses demonstrate phylogenomic relationships of Gossypium barbadense in China and selection for fibre length, lint percentage and Fusarium wilt resistance.

Plant Biotechnology Journal
Zhao, Nan N; Wang, Weiran W; Grover, Corrinne E CE; Jiang, Kaiyun K; Pan, Zhuanxia Z; Guo, Baosheng B; Zhu, Jiahui J; Su, Ying Y; Wang, Meng M; Nie, Hushuai H; Xiao, Li L; Guo, Anhui A; Yang, Jing J; Cheng, Cheng C; Ning, Xinmin X; Li, Bin B; Xu, Haijiang H; Adjibolosoo, Daniel D; Aierxi, Alifu A; Li, Pengbo P; Geng, Junyi J; Wendel, Jonathan F JF; Kong, Jie J; Hua, Jinping J
Publication Date: 2022-04

Variant appearance in text: FBN: S19f
PubMed Link: 34800075
Variant Present in the following documents:
  • PBI-20-691.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: FBN1: S19F
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page