KIAA1614

Chr 1

KIAA1614

NCBI Gene: 57710ENSG00000135835UniProt: Q5VZ46

Predicted to be involved in centrosome cycle; establishment or maintenance of cell polarity; and regulation of cellular localization. Predicted to be active in apical plasma membrane; cell cortex; and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.00
LOEUF
GOF
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?
1.00LOEUF
pLI 0.000
Z-score 1.56
OE 0.73 (0.54–1.00)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.53Z-score
OE missense 0.94 (0.88–1.01)
654 obs / 693.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.73 (0.54–1.00)
0≤0.351.4
Missense OE?0.94 (0.88–1.01)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 29 / 39.6Missense obs/exp: 654 / 693.5Syn Z: 0.77

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KIAA1614 · 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