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SAR1B

Synonyms
ANDD, CMRD, GTBPB, SARA2
External resources
Summary
The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. This protein is part of the COPII coat complex. Defects in this gene are a cause of chylomicron retention disease (CMRD), also known as Anderson disease (ANDD). Two transcript variants encoding the same protein have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
2
Likely pathogenic
1
VUS
14,361
Likely benign
761
Benign
1

Patient phenotypes

Proportions of phenotypes among 3 patients carrying pathogenic or likely pathogenic variants on SAR1B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the genitourinary system
66.7%
Abnormality of the nervous system
66.7%
Abnormality of blood and blood-forming tissues
33.3%
Abnormality of the digestive system
33.3%
Abnormality of the endocrine system
33.3%
Abnormality of the integument
33.3%
Abnormality of the musculoskeletal system
33.3%
Constitutional symptom
33.3%
Abnormal cellular phenotype
0%
Abnormality of head or neck
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the ear
0%
Abnormality of the eye
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Growth abnormality
0%
Neoplasm
0%

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