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FBN1 c.3349T>C ;(p.C1117R)
Variant ID: 15-48779623-A-G
NM_000138.4(
FBN1
):c.3349T>C;(p.C1117R)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.
Plos One
Jensen, Sacha A SA; Atwa, Ondine O; Handford, Penny A PA
Publication Date: 2021
Variant appearance in text: FBN1: 3349T>C; Cys1117Arg
PubMed Link:
33735269
Variant Present in the following documents:
pone.0248532.s001.xlsx, sheet 1
View BVdb publication page
Steered molecular dynamic simulations reveal Marfan syndrome mutations disrupt fibrillin-1 cbEGF domain mechanosensitive calcium binding.
Scientific Reports
Haller, Stephen J SJ; Roitberg, Adrian E AE; Dudley, Andrew T AT
Publication Date: 2020-10-08
Variant appearance in text: FBN1: C1117R
PubMed Link:
33033378
Variant Present in the following documents:
Main text
41598_2020_Article_73969.pdf
View BVdb publication page
The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrums.
Medicine
Seo, Go Hun GH; Kim, Yoon-Myung YM; Kang, Eungu E; Kim, Gu-Hwan GH; Seo, Eul-Ju EJ; Lee, Beom Hee BH; Choi, Jin-Ho JH; Yoo, Han-Wook HW
Publication Date: 2018-05
Variant appearance in text: FBN1: 3349T>C; Cys1117Arg
PubMed Link:
29768367
Variant Present in the following documents:
medi-97-e10767.pdf
View BVdb publication page