NPIPA3

Chr 16

nuclear pore complex interacting protein family member A3

40
ClinVar variants
28
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryNPIPA3
📋
ClinVar Variants
28 Pathogenic / Likely Pathogenic· 12 VUS of 40 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

40 submitted variants in ClinVar

Classification Summary

Pathogenic22
Likely Pathogenic6
VUS12
22
Pathogenic
6
Likely Pathogenic
12
VUS

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
22
Likely Pathogenic
6
VUS
12
Likely Benign
0
Benign
0
Total40

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

NPIPA3 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

No OMIM entries found.