RAD23B

Chr 9

RAD23 nucleotide excision repair protein B

Also known as: HHR23B, HR23B, P58

NCBI Gene: 5887ENSG00000119318UniProt: P54727OMIM: 600062

The RAD23B protein is a component of the XPC nucleotide excision repair complex that recognizes UV and chemical DNA damage, and also functions as a multiubiquitin chain receptor that delivers proteins to the proteasome for degradation. Mutations cause xeroderma pigmentosum complementation group C, characterized by extreme sun sensitivity, increased cancer risk, and progressive neurodegeneration with childhood onset, inherited in an autosomal recessive pattern. This gene is highly constrained against loss-of-function mutations, indicating its critical cellular functions.

OMIMResearchSummary from RefSeq, UniProt
LOFmechanismLOEUF 0.23
Clinical Summary— RAD23B
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
35 unique Pathogenic / Likely Pathogenic· 42 VUS of 94 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.23LOEUF
pLI 0.996
Z-score 4.04
OE 0.05 (0.02–0.23)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
1.75Z-score
OE missense 0.66 (0.57–0.76)
138 obs / 209.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.05 (0.02–0.23)
0≤0.351.4
Missense OE0.66 (0.57–0.76)
0≤0.61.4
Synonymous OE1.12
0≤1.21.6
LoF obs/exp: 1 / 20.9Missense obs/exp: 138 / 209.5Syn Z: -0.81
DN
0.3296th %ile
GOF
0.3094th %ile
LOF
0.69top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.23

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

94 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic31
Likely Pathogenic4
VUS42
Likely Benign6
31
Pathogenic
4
Likely Pathogenic
42
VUS
6
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
31
0
31
Likely Pathogenic
0
0
4
0
4
VUS
0
37
5
0
42
Likely Benign
0
1
1
4
6
Benign
0
0
0
0
0
Total03841483

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

RAD23B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients