FBN1 c.1754G>A ;(p.G585E)

Variant ID: 15-48800862-C-T

NM_000138.4(FBN1):c.1754G>A;(p.G585E)

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: 1754G>A; Gly585Glu
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Amino Acid and Phospholipid Metabolism as an Indicator of Inflammation and Subtle Cardiomyopathy in Patients with Marfan Syndrome.

Metabolites
Bartenbach, Lisa L; Karall, Thomas T; Koch, Jakob J; Keller, Markus Andreas MA; Oberacher, Herbert H; Scholl-Bürgi, Sabine S; Karall, Daniela D; Oemer, Gregor G; Baumgartner, Daniela D; Meinel, Katharina K; Aly, Safwat S; Odri-Komazec, Irena I; Geiger, Ralf R; Michel, Miriam M
Publication Date: 2021-11-27

Variant appearance in text: FBN1: 1754G>A; G585E
PubMed Link: 34940564
Variant Present in the following documents:
  • Main text
  • metabolites-11-00805.pdf
View BVdb publication page



Amino Acid and Phospholipid Metabolism as an Indicator of Inflammation and Subtle Cardiomyopathy in Patients with Marfan Syndrome.

Metabolites
Bartenbach, Lisa L; Karall, Thomas T; Koch, Jakob J; Keller, Markus Andreas MA; Oberacher, Herbert H; Scholl-Bürgi, Sabine S; Karall, Daniela D; Oemer, Gregor G; Baumgartner, Daniela D; Meinel, Katharina K; Aly, Safwat S; Odri-Komazec, Irena I; Geiger, Ralf R; Michel, Miriam M
Publication Date: 2021-11-27

Variant appearance in text: FBN1: 1754G>A; G585E
PubMed Link: 34940564
Variant Present in the following documents:
  • Main text
  • metabolites-11-00805.pdf
View BVdb publication page



The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16

Variant appearance in text: FBN1: G585E
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: FBN1: G585E
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page