CIMIP3

Chr 6

ciliary microtubule inner protein 3

Also known as: GUCA1ANB

NCBI Gene: 114841037ENSG00000287363UniProt: X6R8D5

Predicted to enable calcium ion binding activity. Predicted to be involved in visual perception. [provided by Alliance of Genome Resources, Jul 2025]

15
ClinVar variants
3
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— CIMIP3
📋
ClinVar Variants
3 Pathogenic / Likely Pathogenic· 10 VUS of 15 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

15 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic3
VUS10
Benign2
3
Pathogenic
10
VUS
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
3
0
3
Likely Pathogenic
0
0
0
0
0
VUS
0
5
2
3
10
Likely Benign
0
0
0
0
0
Benign
0
1
1
0
2
Total066315

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CIMIP3 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for CIMIP3

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