Candidiasis, familial, 6: genes and variants
Explore variant evidence for Candidiasis, familial, 6 across 2 analyzed proteins (TRAF3IP2, IL17F). Linked ClinVar records include 1 pathogenic or likely pathogenic variants, 94 variants of uncertain significance and 5 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Candidiasis, familial, 6
TRAF3IP2: E3 ubiquitin ligase TRAF3IP2
It connects IL-17 receptors to downstream NF-kappaB and MAPK signaling and is therefore central to barrier-tissue inflammatory responses. Pathogenic loss-of-function variants can cause chronic mucocutaneous candidiasis, while common variants influence psoriasis and related inflammatory disease.
1 ClinVar pathogenic / likely pathogenic and 17 uncertain variants in TRAF3IP2 have source records linked to Candidiasis, familial, 6. Association strength is not clinical gene validity.
IL17F: Interleukin-17F
It promotes epithelial and stromal antimicrobial responses, chemokine production, and neutrophil recruitment, often together with IL-17A. Dominant-negative or loss-of-function variants can predispose to chronic mucocutaneous candidiasis.
0 ClinVar pathogenic / likely pathogenic and 82 uncertain variants in IL17F have source records linked to Candidiasis, familial, 6. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Candidiasis, familial, 6
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TRAF3IP2 T536I | 536 | SEFIR | Pathogenic / likely pathogenic |
Diseases related to Candidiasis, familial, 6
- Chronic mucocutaneous candidosis, also linked to IL17F and TRAF3IP2
Frequently asked questions
Which genes have records linked to Candidiasis, familial, 6?
This view contains 2 analyzed proteins: TRAF3IP2, IL17F. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 1 pathogenic or likely pathogenic variants, 94 variants of uncertain significance and 5 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 106 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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