FBN1 c.7498T>C ;(p.C2500R)

Variant ID: 15-48714221-A-G

NM_000138.4(FBN1):c.7498T>C;(p.C2500R)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.

Journal Of The American Heart Association
Yagyu, Takeshi T; Noguchi, Teruo T; Asano, Yoshihiro Y; Ida, Kazufumi K; Ogata, Soshiro S; Nishimura, Kunihiro K; Matsuda, Hitoshi H
Publication Date: 2023-04-12

Variant appearance in text: FBN1: Cys2500Arg; rs363810
PubMed Link: 37042257
Variant Present in the following documents:
  • JAH3-12-e028625.pdf
  • JAH3-12-e028625-s001.pdf
View BVdb publication page



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: 7498T>C; Cys2500Arg
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: 7498T>C; Cys2500Arg
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx, sheet 4
View BVdb publication page



Phage peptides mediate precision base editing with focused targeting window.

Nature Communications
Jia, Kun K; Cui, Yan-Ru YR; Huang, Shisheng S; Yu, Peihong P; Lian, Zhengxing Z; Ma, Peixiang P; Liu, Jia J
Publication Date: 2022-03-29

Variant appearance in text: FBN1: C2500R
PubMed Link: 35351888
Variant Present in the following documents:
  • Main text
View BVdb publication page



KPT330 improves Cas9 precision genome- and base-editing by selectively regulating mRNA nuclear export.

Communications Biology
Cui, Yan-Ru YR; Wang, Shao-Jie SJ; Ma, Tiancheng T; Yu, Peihong P; Chen, Jun J; Guo, Taijie T; Meng, Genyi G; Jiang, Biao B; Dong, Jiajia J; Liu, Jia J
Publication Date: 2022-03-17

Variant appearance in text: FBN1: C2500R
PubMed Link: 35301428
Variant Present in the following documents:
  • Main text
  • 42003_2022_Article_3188.pdf
View BVdb publication page



Current trends in gene recovery mediated by the CRISPR-Cas system.

Experimental & Molecular Medicine
Jang, Hyeon-Ki HK; Song, Beomjong B; Hwang, Gue-Ho GH; Bae, Sangsu S
Publication Date: 2020-07

Variant appearance in text: FBN1: 7498T>C
PubMed Link: 32651459
Variant Present in the following documents:
  • 12276_2020_Article_466.pdf
View BVdb publication page