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RAB34

Synonyms
NARR, RAB39, RAH
External resources
Summary
This gene encodes a protein belonging to the RAB family of proteins, which are small GTPases involved in protein transport. This family member is a Golgi-bound member of the secretory pathway that is involved in the repositioning of lysosomes and the activation of macropinocytosis. Alternative splicing of this gene results in multiple transcript variants. An alternatively spliced transcript variant produces the nine-amino acid residue-repeats (NARR) protein, which is a functionally distinct nucleolar protein resulting from a different reading frame.

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
32
Likely pathogenic
22
VUS
1,450
Likely benign
106
Benign
0

Patient Phenotypes

Proportions of phenotypes among 54 patients carrying pathogenic or likely pathogenic variants on RAB34 gene are displayed below. The following symptoms were found in patients with a variant in RAB34. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
42.6%
Abnormality of the nervous system
35.2%
Abnormality of the musculoskeletal system
25.9%
Abnormality of head or neck
18.5%
Abnormality of the cardiovascular system
16.7%
Abnormality of the ear
14.8%
Growth abnormality
14.8%
Abnormality of the digestive system
11.1%
Abnormality of the immune system
11.1%
Abnormality of blood and blood forming tissues
9.3%
Abnormality of limbs
9.3%
Abnormality of metabolism homeostasis
9.3%
Abnormality of the integument
9.3%
Abnormality of the genitourinary system
7.4%
Abnormality of the endocrine system
5.6%
Neoplasm
5.6%
Abnormality of the respiratory system
3.7%
Constitutional symptom
3.7%
Abnormal cellular phenotype
1.9%
Abnormality of prenatal development or birth
1.9%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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