APPBP2-DT

Chr 17

APPBP2 divergent transcript

NCBI Gene: 120017341ENSG00000259349
0
Active trials
5
Pathogenic / LP
5
ClinVar variants
0
Pubs (1 yr)
—
Missense Z
—
LOEUF
Clinical Summary— APPBP2-DT
📋
ClinVar Variants
5 Pathogenic / Likely Pathogenic of 5 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

5 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic5
5
Pathogenic

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————5
Likely Pathogenic
————0
VUS
————0
Likely Benign
————0
Benign
————0
Total—5

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

APPBP2-DT · protein map & ClinVar variants

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

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

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients