VCF1
Chr 17VCP nuclear cofactor family member 1
Also known as: FAM104A
Clinical Summary— VCF1
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Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.27) despite low pLI — interpret in context.
Some data sources returned errors (1)
ensembl: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.84LOEUF
pLI 0.246
Z-score 1.85
OE 0.27 (0.11–0.84)
Typical tolerance to LoF variation
Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.02Z-score
OE missense 1.01 (0.87–1.17)
124 obs / 123.3 exp
Tolerant to missense variation
Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.27 (0.11–0.84)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.01 (0.87–1.17)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.11
0≤1.21.6
LoF obs/exp: 2 / 7.5Missense obs/exp: 124 / 123.3Syn Z: -0.59
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
VCF1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype Relationships
1 OMIM entry
VCP NUCLEAR COFACTOR FAMILY, MEMBER 1; VCF1
MIM #621109 · *
External Resources
Links to major genomics databases and tools
Clinical Literature
Landmark / reviewRecent case evidence
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
VCF1 is a p97/VCP cofactor promoting recognition of ubiquitylated p97-UFD1-NPL4 substrates.
Mirsanaye AS et al.·Nat Commun
2024Open Access
The FAM104 proteins VCF1/2 promote the nuclear localization of p97/VCP.
Körner M et al.·Elife
2023Open Access
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
A low-cost dpMIG-seq method for elucidating complex inheritance in polysomic crops: a case study in tetraploid blueberry
Nagasaka K et al.·Hortic Res
2024
Chloroplast whole genome assembly and phylogenetic analysis of Persicaria criopolitana reveals its new taxonomic status
Zou T et al.·Sci Rep
2025
GenoREC: A Recommendation System for Interactive Genomics Data Visualization
Pandey A et al.·IEEE Trans Vis Comput Graph
2022
Analytical Validation of a Genomic Newborn Screening Workflow
Hovhannesyan K et al.·Int J Neonatal Screen
2025
World Trade Center Health Program : United States, 2012-2020
Azofeifa A et al.·MMWR Surveill Summ
2021
Knocking down the neuronal lactate transporter MCT2 in the arcuate nucleus of female rats increases food intake and body weight
Coca A et al.·Sci Rep
2025
Ca2+ permeation through C-terminal cleaved, but not full-length human Pannexin1 hemichannels, mediates cell death
Salgado M et al.·Proc Natl Acad Sci U S A
2024
Top 8 full-text resultsSearch PubTator3 ↗
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools