Home > Gene Browser > HOOK3
HOOK3
- Synonyms
- HK3
- External resources
- NCBI84376
- OMIM607825
- EnsemblENSG00000168172
- HGNCHGNC:23576
- Summary
- Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.
Variant counts
The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.
- Pathogenic
- 7
- Likely pathogenic
- 5
- VUS
- 6,713
- Likely benign
- 8,674
- Benign
- 0
Patient phenotypes
Proportions of phenotypes among 10 patients carrying pathogenic or likely pathogenic variants on HOOK3 gene are displayed below.
- Phenotype class
- Patients in 3billion (%)
- Abnormality of the cardiovascular system
- 60%
- Constitutional symptom
- 60%
- Abnormality of head or neck
- 10%
- Abnormality of the musculoskeletal system
- 10%
- Abnormality of the nervous system
- 10%
- Abnormal cellular phenotype
- 0%
- Abnormality of blood and blood-forming tissues
- 0%
- Abnormality of limbs
- 0%
- Abnormality of metabolism homeostasis
- 0%
- Abnormality of prenatal development or birth
- 0%
- Abnormality of the breast
- 0%
- Abnormality of the digestive system
- 0%
- Abnormality of the ear
- 0%
- Abnormality of the endocrine system
- 0%
- Abnormality of the eye
- 0%
- Abnormality of the genitourinary system
- 0%
- Abnormality of the immune system
- 0%
- Abnormality of the integument
- 0%
- Abnormality of the respiratory system
- 0%
- Abnormality of the thoracic cavity
- 0%
- Abnormality of the voice
- 0%
- Growth abnormality
- 0%
- Neoplasm
- 0%
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