FBN1 c.8339T>C ;(p.L2780P)

Variant ID: 15-48703464-A-G

NM_000138.4(FBN1):c.8339T>C;(p.L2780P)

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: 8339T>C; Leu2780Pro
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



C-terminal propeptide is required for fibrillin-1 secretion and blocks premature assembly through linkage to domains cbEGF41-43.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Jensen, Sacha A SA; Aspinall, Georgia G; Handford, Penny A PA
Publication Date: 2014-07-15

Variant appearance in text: FBN1: L2780P
PubMed Link: 24982166
Variant Present in the following documents:
  • Main text
View BVdb publication page