Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.R124P
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FGFR3

NM_000142.5:p.R124P

Associated Papers

Effect of the G375C and G346E achondroplasia mutations on FGFR3 activation.

He L et al.

Plos One, 2012

The strong dimerization of the transmembrane domain of the fibroblast growth factor receptor (FGFR) is modulated by C-terminal juxtamembrane residues.

Peng WC et al.

Protein Science : a Publication of the Protein Society, 2009

Differential activation of cysteine-substitution mutants of fibroblast growth factor receptor 3 is determined by cysteine localization.

Adar R et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2002

Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis.

Chen L et al.

The Journal of Clinical Investigation, 1999

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."