RFWD3 Chromosome 16
Ring finger and WD repeat domain 3
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What This Gene Does
Enables MDM2/MDM4 family protein binding activity; p53 binding activity; and ubiquitin protein ligase activity. Involved in several processes, including DNA metabolic process; regulation of cell cycle phase transition; and response to ionizing radiation. Located in nucleoplasm and site of double-strand break. Implicated in Fanconi anemia complementation group W. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Ring finger proteins|WD repeat domain containing|FA complementation groups"
Locus Type
gene with protein product
Location
16q23.1
Ensembl
ENSG00000168411
Associated Conditions (3)
RFWD3-related disorder
Fanconi anemia
complementation group W
Key Variants
RS1030253516
Conflicting classifications of pathogenicity
Health Risk
RS141685768
Conflicting classifications of pathogenicity
Health Risk
RS1433703349
Conflicting classifications of pathogenicity
Health Risk
RS148545931
Conflicting classifications of pathogenicity
RFWD3-related disorder, RFWD3-related disorder
Health Risk
RS549212476
Conflicting classifications of pathogenicity
RFWD3-related disorder, RFWD3-related disorder
Health Risk
RS755700844
Conflicting classifications of pathogenicity
Health Risk
RS766228902
Conflicting classifications of pathogenicity
Health Risk
RS768967844
Conflicting classifications of pathogenicity
Health Risk
RS775043994
Conflicting classifications of pathogenicity
Health Risk
RS777224972
Conflicting classifications of pathogenicity
Health Risk
RS977485902
Conflicting classifications of pathogenicity
Health Risk
RS1555524842
Pathogenic
Fanconi anemia, complementation group W, Fanconi anemia
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1030253516 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141685768 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1433703349 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148545931 | Health Risk | Conflicting classifications of pathogenicity | RFWD3-related disorder, RFWD3-related disorder |
| RS549212476 | Health Risk | Conflicting classifications of pathogenicity | RFWD3-related disorder, RFWD3-related disorder |
| RS755700844 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS766228902 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS768967844 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS775043994 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS777224972 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS977485902 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1555524842 | Health Risk | Pathogenic | Fanconi anemia, complementation group W, Fanconi anemia |
| RS1961408684 | Health Risk | Pathogenic | — |