FBN1 c.611G>C ;(p.C204S)

Variant ID: 15-48829933-C-G

NM_000138.4(FBN1):c.611G>C;(p.C204S)

This variant was identified in 2 publications

View GRCh38 version.




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:
  • mmc3.pdf
  • mmc1.pdf
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