FBN1 c.2180G>A ;(p.C727Y)

Variant ID: 15-48789576-C-T

NM_000138.4(FBN1):c.2180G>A;(p.C727Y)

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: 2180G>A; Cys727Tyr
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: 2180G>A; Cys727Tyr
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx, sheet 4
View BVdb publication page



Genotype variant screening and phenotypic analysis of FBN1 in Chinese patients with isolated ectopia lentis.

Molecular Medicine Reports
Zhou, Yijing Y; Guo, Dongwei D; Cao, Qianzhong Q; Zhang, Xinyu X; Jin, Guangming G; Zheng, Danying D
Publication Date: 2021-04

Variant appearance in text: FBN1: Cys727Tyr
PubMed Link: 33576469
Variant Present in the following documents:
  • Main text
  • mmr-23-04-11914.pdf
View BVdb publication page



New insights into the pathogenicity of non-synonymous variants through multi-level analysis.

Scientific Reports
Sun, Hong H; Yu, Guangjun G
Publication Date: 2019-02-07

Variant appearance in text: FBN1: 2180G>A
PubMed Link: 30733553
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_38189.pdf
View BVdb publication page