RFWD3 — ring finger and WD repeat domain 3

5 sources retrieved · Most recent: April 2026 · Index updated 27 days ago

59PubMed Papers

#7,807 · top 40% of 19K genes

21Diseases

top 18%

0Drugs

3Pathogenic Variants

top 74%

OMIM Disease GeneDNA RepairHomologous RecombinationExperimental GO EvidenceSwiss-Prot Reviewed

site of double-strand breakp53 bindingnucleussite of DNA damageFanconi anemia, complementation group Wmultiple myelomaFanconi anemialymphoid neoplasm

AI Summary

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ring finger and WD repeat domain 3

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations21

Fanconi anemia, complementation group WOpen Targets

0.58Moderate

multiple myelomaOpen Targets

0.45Moderate

Fanconi anemiaOpen Targets

0.44Moderate

lymphoid neoplasmOpen Targets

0.44Moderate

Testicular Germ Cell TumorOpen Targets

0.40Weak

neurodegenerative diseaseOpen Targets

0.37Weak

testicular carcinomaOpen Targets

0.32Weak

restless legs syndromeOpen Targets

0.32Weak

Abnormality of the immune systemOpen Targets

0.28Weak

hepatocellular carcinomaOpen Targets

0.21Weak

osteosarcomaOpen Targets

0.20Weak

non-small cell lung carcinomaOpen Targets

0.19Weak

ovarian serous adenocarcinomaOpen Targets

0.19Weak

urinary bladder carcinomaOpen Targets

0.19Weak

gastric carcinomaOpen Targets

0.19Weak

colorectal adenocarcinomaOpen Targets

0.19Weak

head and neck squamous cell carcinomaOpen Targets

0.19Weak

lung carcinomaOpen Targets

0.19Weak

melanomaOpen Targets

0.19Weak

squamous cell lung carcinomaOpen Targets

0.19Weak

Fanconi anemia, complementation group WUniProt

Pathogenic Variants3

NM_018124.4(RFWD3):c.2065dup (p.Thr689fs)Likely pathogenic

Fanconi anemia

★☆☆☆2022→ Residue 689

NM_018124.4(RFWD3):c.1916T>A (p.Ile639Lys)Pathogenic

Fanconi anemia, complementation group W|not provided

☆☆☆☆2017→ Residue 639

NM_018124.4(RFWD3):c.205_206dup (p.Leu70fs)Pathogenic

not provided

☆☆☆☆2017→ Residue 70

Tissue Expression6 tissues

Bone Marrow

100%

Brain

26%

Ovary

12%

Lung

11%

Liver

Heart

Gene Interaction Network6 neighbors

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Structure1 PDB hit

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PDB6CVZ · 1.80 Å · X-ray

View on RCSB

ConstraintgnomAD v4.1

LOEUFⓘ

0.93LoF Tolerant

pLIⓘ

0.00Tolerant

Observed/Expected LoF0.75 [0.61–0.93]

Rankings3 dim

Where RFWD3 stands among ~20K protein-coding genes

#7,809of 20,598
Most Researched59
#4,046of 5,499
Most Pathogenic Variants3
#8,600of 17,882
Most Constrained (LOEUF)0.93