FBN1 c.281G>T ;(p.C94F)

Variant ID: 15-48902990-C-A

NM_000138.4(FBN1):c.281G>T;(p.C94F)

This variant was identified in 2 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: 281G>T; Cys94Phe
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



LAMP: disease classification derived from layered assessment on modules and pathways in the human gene network.

Bmc Bioinformatics
Mi, Zhilong Z; Guo, Binghui B; Yang, Xiaobo X; Yin, Ziqiao Z; Zheng, Zhiming Z
Publication Date: 2020-10-30

Variant appearance in text: FBN1: C94F
PubMed Link: 33126852
Variant Present in the following documents:
  • Main text
View BVdb publication page