Bibliome.ai browser hg19
Search
About
Stats
FAQ
FBN1 c.610T>A ;(p.C204S)
Variant ID: 15-48829934-A-T
NM_000138.4(
FBN1
):c.610T>A;(p.C204S)
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:
The N-Terminal Region of Fibrillin-1 Mediates a Bipartite Interaction with LTBP1.
Structure (London, England : 1993)
Robertson, Ian B IB; Dias, Hans F HF; Osuch, Isabelle H IH; Lowe, Edward D ED; Jensen, Sacha A SA; Redfield, Christina C; Handford, Penny A PA
Publication Date: 2017-08-01
Variant appearance in text: FBN1: C204S
PubMed Link:
28669633
Variant Present in the following documents:
mmc1.pdf
mmc3.pdf
View BVdb publication page
Early fibrillin-1 assembly monitored through a modifiable recombinant cell approach.
Biomacromolecules
Hubmacher, Dirk D; Bergeron, Eric E; Fagotto-Kaufmann, Christine C; Sakai, Lynn Y LY; Reinhardt, Dieter P DP
Publication Date: 2014-04-14
Variant appearance in text: FBN1: 610T>A
PubMed Link:
24559401
Variant Present in the following documents:
Main text
View BVdb publication page
Structure and interdomain interactions of a hybrid domain: a disulphide-rich module of the fibrillin/LTBP superfamily of matrix proteins.
Structure (London, England : 1993)
Jensen, Sacha A SA; Iqbal, Sarah S; Lowe, Edward D ED; Redfield, Christina C; Handford, Penny A PA
Publication Date: 2009-05-13
Variant appearance in text: FBN1: Cys204Ser
PubMed Link:
19446531
Variant Present in the following documents:
Main text
View BVdb publication page