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RIC3

Synonyms
AYST720, PRO1385
External resources
Summary
This gene encodes a member of the resistance to inhibitors of cholinesterase 3-like family which functions as a chaperone of specific 5-hydroxytryptamine type 3 receptor and nicotinic acetylcholine receptor subtypes. The encoded protein influences the folding and assembly of these receptor subunits in the endoplasmic reticulum and expression on the cell surface. This protein contains an N-terminal transmembrane domain, a proline-rich spacer, and a cytosolic C-terminal coiled-coil domain. Alternative splicing results in multiple transcript variants.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
1
Likely pathogenic
4
VUS
2,499
Likely benign
1,376
Benign
1,368

Patient Phenotypes

Proportions of phenotypes among 5 patients carrying pathogenic or likely pathogenic variants on RIC3 gene are displayed below. The following symptoms were found in patients with a variant in RIC3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
60%
Growth abnormality
60%
Abnormality of blood and blood forming tissues
40%
Abnormality of head or neck
40%
Abnormality of the ear
40%
Abnormality of the musculoskeletal system
40%
Abnormality of limbs
20%
Abnormality of the cardiovascular system
20%
Abnormality of the digestive system
20%
Abnormality of the endocrine system
20%
Abnormality of the genitourinary system
20%
Abnormality of the immune system
20%
Abnormality of the integument
20%
Abnormality of the respiratory system
20%
Neoplasm
20%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the eye
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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