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GALP

Synonyms
-
External resources
Summary
This gene encodes a member of the galanin family of neuropeptides. The encoded protein binds galanin receptors 1, 2 and 3 with the highest affinity for galanin receptor 3 and has been implicated in biological processes involving the central nervous system including hypothalamic regulation of metabolism and reproduction. A peptide encoded by a splice variant of this gene, termed alarin, has vasoactive properties, displays antimicrobial activity against E. coli, and may serve as a marker for neuroblastic tumors.

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
34
Likely pathogenic
0
VUS
2,498
Likely benign
250
Benign
0

Patient phenotypes

Proportions of phenotypes among 34 patients carring pathogenic or likely pathogenic variants on GALP gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
29.4%
Abnormality of the cardiovascular system
17.6%
Abnormality of the musculoskeletal system
17.6%
Abnormality of head or neck
14.7%
Abnormality of blood and blood-forming tissues
11.8%
Abnormality of the ear
11.8%
Abnormality of the genitourinary system
11.8%
Abnormality of the immune system
8.8%
Growth abnormality
8.8%
Abnormality of the endocrine system
5.9%
Abnormality of limbs
2.9%
Abnormality of prenatal development or birth
2.9%
Abnormality of the digestive system
2.9%
Abnormality of the eye
2.9%
Abnormality of the integument
2.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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