FANCD2 R302W - GET-Evidence

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

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Curation:
Currentness:

FANCD2 R302W

(FANCD2 Arg302Trp)


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 FANCD2 gene
    Prostate cancer
    Fanconi Anemia
    BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer
    BRCA2 Hereditary Breast/Ovarian Cancer
    BRCA2-Related Fanconi Anemia
    FANCD2-Related Fanconi Anemia
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FANCD2
    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (16 hits -- see all)
  • PII: S1097-2765(01)00172-1
    Blots were probed with a full-length FANCD2 cDNA and exposed ... R302W and. 5 -TTTCTTCCATGTGATGA-3 for R1236H) oligonucleotides were. tions in FANCD2 (PD20, ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • FANCD2 Mutations
    FANCD2. PolyMut. mutation. Mutation. 904C>T. Published Name. 904C>T. Amino Acid Change. R302W ... FANCD2. PolyMut. mutation. Mutation. 958C>T. Published Name. 958C>T. Amino ...
    www.rockefeller.edu/fanconi/mutate/public/fad2mut_pub.html
  • The Interaction of BRCA2 with both the Monoubiquitinated and ...
    FANCD2 and BRCA2 could be coimmunoprecipitated from cell extracts of both human ... derived missense mutation R302W disrupts the D2/BRCA2 interaction in Y2H. ...
    fanconi.org/research/.../Oral Abstracts/Jones.pdf
  • Insights into Fanconi Anaemia from the structure of human ...
    Monoubiquitination acts as a signal for FANCD2 recruitment to nuclear foci where it ... It is possible that the R302W mutation in FANCD2 acts in a similar way to the ...
    nar.oxfordjournals.org/cgi/content/full/35/5/1638
  • Insights into Fanconi Anaemia from the structure of human FANCE
    Monoubiquitination acts as a signal for FANCD2 recruitment to nuclear foci where it ... It is possible that the R302W mutation in FANCD2 acts in a similar way to the ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1865054/?tool=pubmed
  • doi:10.1086/517616
    FANCD2 is an evolutionarily conserved Fanconi anemia (FA) gene that plays a key ... mutations; residual FANCD2 protein of both isotypes was observed in all ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • UNCORRE CTED PROOF
    protein interactions, and the knockdown of fancd2 produced ... phenotype, and that fancd2 suppresses p53-mediated apoptosis. 391. during cellular ...
    www.neuro.uoregon.edu/postle/TelGene2/pdf/fanconipaper.pdf
  • Methods and compositions for the diagnosis of cancer ...
    ... susceptibilities, defective DNA repair mechanisms and treatments thereof are provided. Among sequences provided here, the FANCD2 gene has been iden ...
    www.freepatentsonline.com/y2003/0093819.html
  • Methods and compositions for the diagnosis of cancer ...
    Methods and compositions for the diagnosis of cancer susceptibilities, defective DNA repair mechanisms and treatments thereof are provided. Among sequences provided
    patents.com/Methods-compositions-diagnosis-cancer-suscept...

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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