TVP23C

Chr 17

trans-golgi network vesicle protein 23 homolog C

Also known as: FAM18B2

NCBI Gene: 201158ENSG00000175106UniProt: Q96ET8

Predicted to be involved in protein secretion and vesicle-mediated transport. Predicted to be located in membrane. Predicted to be active in Golgi membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.43
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.43LOEUF
pLI 0.000
Z-score 0.60
OE 0.80 (0.47–1.43)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.52Z-score
OE missense 1.12 (0.99–1.27)
167 obs / 149.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.80 (0.47–1.43)
0≤0.351.4
Missense OE?1.12 (0.99–1.27)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 8 / 10.1Missense obs/exp: 167 / 149.0Syn Z: 0.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TVP23C · 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