FBN1 c.3703T>C ;(p.S1235P)

Variant ID: 15-48777580-A-G

NM_000138.4(FBN1):c.3703T>C;(p.S1235P)

This variant was identified in 4 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: 3703T>C; Ser1235Pro
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Are transient protein-protein interactions more dispensable?

Plos Computational Biology
Ghadie, Mohamed Ali MA; Xia, Yu Y
Publication Date: 2022-04

Variant appearance in text: FBN1: 3703T>C; Ser1235Pro
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx, sheet 4
View BVdb publication page



Estimating dispensable content in the human interactome.

Nature Communications
Ghadie, Mohamed M; Xia, Yu Y
Publication Date: 2019-07-19

Variant appearance in text: FBN1: 3703T>C; Ser1235Pro
PubMed Link: 31324802
Variant Present in the following documents:
  • 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
  • 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4
View BVdb publication page



Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome.

Molecular Vision
Meng, Bo B; Li, Hongyi H; Yang, Tao T; Huang, Shangzhi S; Sun, Xian X; Yuan, Huiping H
Publication Date: 2011

Variant appearance in text: FBN1: 3703T>C; S1235P
PubMed Link: 21976953
Variant Present in the following documents:
  • Main text
  • mv-v17-2421.pdf
View BVdb publication page