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AVPR1A

Synonyms
AVPR V1a, AVPR1, V1aR
External resources
Summary
The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1B, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor mediates cell contraction and proliferation, platelet aggregation, release of coagulation factor and glycogenolysis.

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
6
Likely pathogenic
90
VUS
3,448
Likely benign
485
Benign
0

Patient Phenotypes

Proportions of phenotypes among 96 patients carrying pathogenic or likely pathogenic variants on AVPR1A gene are displayed below. The following symptoms were found in patients with a variant in AVPR1A. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.5%
Abnormality of the cardiovascular system
19.8%
Abnormality of the eye
19.8%
Abnormality of the musculoskeletal system
18.8%
Abnormality of head or neck
17.7%
Abnormality of the ear
12.5%
Abnormality of the genitourinary system
9.4%
Growth abnormality
7.3%
Abnormality of the immune system
5.2%
Abnormality of blood and blood forming tissues
4.2%
Abnormality of limbs
4.2%
Abnormality of metabolism homeostasis
4.2%
Abnormality of the integument
4.2%
Neoplasm
4.2%
Abnormality of prenatal development or birth
3.1%
Abnormality of the respiratory system
3.1%
Abnormality of the digestive system
2.1%
Abnormality of the endocrine system
2.1%
Constitutional symptom
2.1%
Abnormality of the voice
1%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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