FGFR3 K652Q - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

FGFR3 K652Q

(FGFR3 Lys652Gln)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the FGFR3 gene
    Achondroplasia
    Crouzon Syndrome with Acanthosis Nigricans
    FGFR-Related Craniosynostosis
    FGFR3-Related Craniosynostosis
    FGFR3-Related Isolated Coronal Synostosis
    Hypochondroplasia
    Lacrimo-Auriculo-Dento-Digital Syndrome
    Muenke Syndrome
    Severe Achondroplasia with Developmental Delay and Acanthosis Ni
    Thanatophoric Dysplasia
    Thanatophoric Dysplasia Type I
    Thanatophoric Dysplasia Type II
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FGFR3
    Web search results (16 hits -- see all)
  • Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in ...
    Oncogene is one of the world's leading cancer journals. It is published weekly and covers all aspects of the structure and function of Oncogenes. ...
    www.nature.com/onc/journal/v20/n6/abs/1204110a.html
  • Modern Pathology - FGFR3 mutations in seborrheic keratoses ...
    Modern Pathology features diagnostic anatomic pathology and contains original scientific papers, selected short courses, appropriate special lectures, reviews, ...
    www.nature.com/modpathol/journal/v20/n8/full/3800837a.html
  • Leroy, K (Karen)
    The influence of PAH on FGFR3 mutations FGFR3 and whether it is related to the ... following FGFR3 mutations: R248C, S249C, G372C, Y375C, A393E,gather K652E, K652Q, K652M, ...
    lib.bioinfo.pl/auid:62731
  • Mendelian Inheritance in Man Document Reader
    Fgfr3 also induced complete growth arrest, whereas the delta-AB isoform induced ... of the human FGFR3 gene is nearly identical to that of the mouse Fgfr3 gene. ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+134934
  • Cancer, Chemistry: Current Research Articles
    Current Articles in the field of molecular cancer research published in online journals.
    www.internetchemie.info/rss/cancer-chemistry.php
  • Antiinflammatory Action of Glucocorticoids — New Mechanisms ...
    We identified activating FGFR3 mutations, almost exclusively at codon 248 (R248C) ... FGFR3 IIIb is mainly expressed in epithelial cells while FGFR3 IIIc is ...
    www.cnic.ac.cn/health/268/62.htm
  • Molekulare Krebsforschung - Neueste Fachartikel der Fachverlage
    Aktuelle Fachartikel zur molekulare Forschung über Krebs, sortiert nach Erscheinungsdatum.
    www.internetchemie.info/rss/krebsforschung.php
  • Annotation Markup
    FGFR3 coding sequence from 63 transitional cell carcinomas (TCC) of various ... One tumour contained K652Q which has recently been identified in less severe ...
    bioie.ldc.upenn.edu/publications/latest_release/data/...
  • BiomedExperts: Loss of heterozygosity at 4p16.3 and mutation ...
    One candidate within this region is fibroblast growth factor receptor 3 (FGFR3) ... One tumour contained K652Q which has recently been identified in less severe ...
    biomedexperts.com/Abstract.bme/11314002/...
  • Abbou, CC (Claude C)
    Abbou, CC (Claude C) :: Do prognostic parameters of remission versus relapse after ... following FGFR3 mutations: R248C, S249C, G372C, Y375C, A393E,possibly K652E, K652Q, K652M, ...
    lib.bioinfo.pl/auid:1413809

Other in silico analyses
 

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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