ABCF2-H2BK1

Chr 7

ABCF2-H2BK1 readthrough

Also known as: ABCF2-H2BE1

NCBI Gene: 114483834ENSG00000285292

This gene represents readthrough transcription between ABCF2 and a downstream histone H2B-like gene. [provided by RefSeq, Mar 2019]

55
ClinVar variants
34
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— ABCF2-H2BK1
📋
ClinVar Variants
34 Pathogenic / Likely Pathogenic· 21 VUS of 55 total submissions
Some data sources returned errors (2)

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

55 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic31
Likely Pathogenic3
VUS21
31
Pathogenic
3
Likely Pathogenic
21
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
31
0
31
Likely Pathogenic
0
0
3
0
3
VUS
0
20
1
0
21
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total02035055

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

View in ClinVar →

Protein Context — Lollipop Plot

ABCF2-H2BK1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for ABCF2-H2BK1

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