Fanconi anemia complementation group D2: genes and variants
Fanconi anemia complementation group D2 is linked to 1 analyzed protein (FANCD2). 6 DNA variants are known to cause it; 207 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Fanconi anemia complementation group D2
FANCD2: Fanconi anemia group D2 protein
Its damage-induced monoubiquitination recruits and coordinates nucleases and homologous-recombination factors at stalled replication forks and interstrand crosslinks. Biallelic loss-of-function variants cause Fanconi anemia group D2.
6 disease-causing and 207 uncertain variants in FANCD2 are linked to Fanconi anemia complementation group D2.
Known disease-causing variants in Fanconi anemia complementation group D2
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FANCD2 S126G | 126 | Interaction with FANCE | Disease-causing (★★) |
| FANCD2 R302W | 302 | Interaction with BRCA2 | Disease-causing (★★) |
| FANCD2 R815Q | 815 | Disease-causing (★★) | |
| FANCD2 R1236H | 1236 | Disease-causing (★★) | |
| FANCD2 L457P | 457 | Disease-causing (★) | |
| FANCD2 L231R | 231 | Interaction with FANCE | Disease-causing |
Diseases related to Fanconi anemia complementation group D2
- Ovarian cancer, also linked to FANCD2
- Acute myeloid leukemia, also linked to FANCD2
- Fanconi anemia, also linked to FANCD2
- Hereditary breast ovarian cancer syndrome, also linked to FANCD2
Frequently asked questions
Which genes are linked to Fanconi anemia complementation group D2?
In CATVariant, Fanconi anemia complementation group D2 is linked to 1 analyzed protein: FANCD2 (Fanconi anemia group D2 protein).
How many genetic variants are linked to Fanconi anemia complementation group D2?
255 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 207 are of uncertain significance or have conflicting reports.
Which uncertain variants in Fanconi anemia complementation group D2 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis 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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