FBXW10B

Chr 17

F-box and WD repeat domain containing 10B

Also known as: C170RF1, C17ORF1, C17ORF1A, CDRT1, FBXW10P1, HREP, SM25H2

FBXW10B encodes an F-box protein that functions as part of SCF ubiquitin ligase complexes to target specific proteins for degradation. The gene is not constrained against loss-of-function variants and no definitive disease associations have been established in the provided data. Clinical significance of variants in this gene requires careful evaluation given the lack of established phenotypes.

OMIMResearchSummary from RefSeq
LOEUF 1.00
Clinical SummaryFBXW10B
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
50 unique Pathogenic / Likely Pathogenic· 7 VUS of 70 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.00LOEUF
pLI 0.000
Z-score 1.54
OE 0.72 (0.531.00)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.66Z-score
OE missense 0.91 (0.830.99)
373 obs / 410.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.72 (0.531.00)
00.351.4
Missense OE0.91 (0.830.99)
00.61.4
Synonymous OE0.92
01.21.6
LoF obs/exp: 26 / 36.0Missense obs/exp: 373 / 410.5Syn Z: 0.82

ClinVar Variant Classifications

70 submitted variants in ClinVar

Classification Summary

Pathogenic49
Likely Pathogenic1
VUS7
Likely Benign2
Benign2
49
Pathogenic
1
Likely Pathogenic
7
VUS
2
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
49
0
49
Likely Pathogenic
0
0
1
0
1
VUS
0
5
2
0
7
Likely Benign
0
1
1
0
2
Benign
0
1
1
0
2
Total0754061

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

View in ClinVar →

Protein Context — Lollipop Plot

FBXW10B · 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

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 1 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found