SCAMP3

Chr 1

secretory carrier membrane protein 3

Also known as: C1orf3

NCBI Gene: 10067ENSG00000116521UniProt: O14828OMIM: 606913

This gene encodes an integral membrane protein that belongs to the secretory carrier membrane protein family. The encoded protein functions as a carrier to the cell surface in post-golgi recycling pathways. This protein is also involved in protein trafficking in endosomal pathways. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]

OMIMResearchGenerating clinical summary…
0
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.70
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.70LOEUF
pLI 0.002
Z-score 2.55
OE 0.39 (0.23–0.70)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.38Z-score
OE missense 0.92 (0.82–1.04)
188 obs / 203.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.39 (0.23–0.70)
0≤0.351.4
Missense OE?0.92 (0.82–1.04)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 8 / 20.5Missense obs/exp: 188 / 203.3Syn Z: 0.16

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SCAMP3 · 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