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AuraGene

Rare Disease & Precision Medicine Explorer
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Featured Diseases:
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25 Diseases in catalog
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12 Active trials
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12 Body systems
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60% With approved therapy

At-a-Glance

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Biological Summary

Cystic Fibrosis

GENE: CFTR

Cystic fibrosis transmembrane conductance regulator

description Biological Function

Epithelial anion channel that plays an essential role in regulating systemic fluid flow and water balance across epithelia.

cell_merge Subcellular Location

Extracellular Space
Cytoplasm

Apical cell membrane, Multi-pass membrane protein

auto_stories Was bedeutet das?

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Typische Symptome
    Reading level
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    3D Molecular Structure

    PDB Source: 1CLL
    vaccines

    Therapeutics & Trials

    Active Clinical Trials

    0 Active
    clinical_trials

    Querying clinical nodes...

    Associated Compounds

    science
    Ivacaftor (VX-770) CFTR Potentiator
    science
    Lumacaftor (VX-809) CFTR Corrector

    Symptom-Suche (HPO)

    Unterstützung & Selbsthilfe

    Fragen für den Arztbesuch

      dna

      Pathogenic Mutations & ClinVar Evidence

      Genetische Varianten — Verständlich

      Variant ID (dbSNP) Genomic Location Consequence Codon Change ClinVar Clinical Significance Action

      Hinweis: Klicke im 3D-Modell auf eine Variante, um den betroffenen Baustein hervorgehoben zu sehen. Frage deine Ärztin / deinen Arzt, was die Befunde für dich konkret bedeuten.

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