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RAB3GAP1

Synonyms
P130, RAB3GAP, RAB3GAP130, WARBM1
External resources
Summary
This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate 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
10
Likely pathogenic
0
VUS
2,637
Likely benign
4,193
Benign
288

Patient phenotypes

Proportions of phenotypes among 10 patients carring pathogenic or likely pathogenic variants on RAB3GAP1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
80%
Abnormality of head or neck
40%
Abnormality of the musculoskeletal system
40%
Abnormality of the cardiovascular system
20%
Abnormality of the ear
20%
Abnormality of the eye
20%
Growth abnormality
20%
Abnormality of limbs
10%
Abnormality of prenatal development or birth
10%
Abnormality of the genitourinary system
10%
Constitutional symptom
10%
Neoplasm
10%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine 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%

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