HCFC1R1

Chr 16

host cell factor C1 regulator 1

ENSG00000103145UniProt: Q9NWW0OMIM: 618818

HCFC1R1 encodes a protein that regulates the transcriptional coactivator HCFC1 by controlling its subcellular localization between the nucleus and cytoplasm. Mutations in HCFC1R1 have not been definitively associated with human disease in the medical literature. This gene shows low constraint against loss-of-function variants, suggesting it may be tolerant to complete protein loss.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.72
Clinical Summary— HCFC1R1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
35 unique Pathogenic / Likely Pathogenic· 36 VUS of 81 total submissions
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Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.72LOEUF
pLI 0.001
Z-score 0.24
OE 0.89 (0.46–1.72)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.53Z-score
OE missense 1.17 (0.98–1.41)
84 obs / 71.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.89 (0.46–1.72)
0≤0.351.4
Missense OE1.17 (0.98–1.41)
0≤0.61.4
Synonymous OE1.09
0≤1.21.6
LoF obs/exp: 5 / 5.6Missense obs/exp: 84 / 71.5Syn Z: -0.37

ClinVar Variant Classifications

81 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic35
VUS36
35
Pathogenic
36
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
35
0
35
Likely Pathogenic
0
0
0
0
0
VUS
0
27
9
0
36
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total02744071

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

View in ClinVar →

Protein Context — Lollipop Plot

HCFC1R1 · 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.

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Clinical Literature
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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

No open access results found

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