APOBEC3F

Chr 22

apolipoprotein B mRNA editing enzyme catalytic subunit 3F

Also known as: A3F, ARP8, BK150C2.4.MRNA, KA6

NCBI Gene: 200316ENSG00000128394UniProt: Q8IUX4

This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

101
ClinVar variants
16
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— APOBEC3F
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
16 Pathogenic / Likely Pathogenic· 57 VUS of 101 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
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.
1.02LOEUF
pLI 0.000
Z-score 1.50
OE 0.65 (0.43–1.02)
Tolerant

Highly tolerant — LoF variants common in population

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.
-1.29Z-score
OE missense 1.24 (1.13–1.37)
275 obs / 221.1 exp
Tolerant

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.0.65 (0.43–1.02)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.24 (1.13–1.37)
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.1.39
0≤1.21.6
LoF obs/exp: 14 / 21.5Missense obs/exp: 275 / 221.1Syn Z: -2.82

ClinVar Variant Classifications

101 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic15
Likely Pathogenic1
VUS57
Likely Benign8
Benign2
15
Pathogenic
1
Likely Pathogenic
57
VUS
8
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
15
0
15
Likely Pathogenic
0
0
1
0
1
VUS
0
53
4
0
57
Likely Benign
0
7
0
1
8
Benign
0
1
0
1
2
Total06120283

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

View in ClinVar →

Protein Context — Lollipop Plot

APOBEC3F · 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

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Restriction Factors in HIV-1 Disease Progression.
Merindol N et al.·Curr HIV Res
2015Review
Rare Variants Associated With Pediatric Cancer Treatment-Related Second Malignant Neoplasm Risk.
Ducos C et al.·JCO Precis Oncol
2025
Possible footprints of APOBEC3F and/or other APOBEC3 deaminases, but not APOBEC3G, on HIV-1 from patients with acute/early and chronic infections.
Armitage AE et al.·J Virol
2014Cohort
APOBEC3DE Antagonizes Hepatitis B Virus Restriction Factors APOBEC3F and APOBEC3G.
Bouzidi MS et al.·J Mol Biol
2016
Multiple ways of targeting APOBEC3-virion infectivity factor interactions for anti-HIV-1 drug development.
Smith JL et al.·Trends Pharmacol Sci
2009Review
Cell-specific regulation of APOBEC3F by interferons.
Ying S et al.·Acta Biochim Biophys Sin (Shanghai)
2007
Transcriptome analysis reveals tumor antigen and immune subtypes of melanoma.
Xie J et al.·Oncol Res
2023
Interactions of host APOBEC3 restriction factors with HIV-1 in vivo: implications for therapeutics.
Albin JS et al.·Expert Rev Mol Med
2010Review
Identification of APOBEC3DE as another antiretroviral factor from the human APOBEC family.
Dang Y et al.·J Virol
2006
Role of APOBEC3F Gene Variation in HIV-1 Disease Progression and Pneumocystis Pneumonia.
An P et al.·PLoS Genet
2016
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools