Home > Gene Browser > SLCO1B1

SLCO1B1

Synonyms
HBLRR, LST-1, LST1, OATP-C, OATP1B1, OATP2, OATPC, SLC21A6
External resources
Summary
This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4. This protein is also involved in the removal of drug compounds such as statins, bromosulfophthalein and rifampin from the blood into the hepatocytes. Polymorphisms in the gene encoding this protein are associated with impaired transporter function.

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
59
Likely pathogenic
182
VUS
7,370
Likely benign
5,194
Benign
304

Patient phenotypes

Proportions of phenotypes among 240 patients carrying pathogenic or likely pathogenic variants on SLCO1B1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
33.8%
Abnormality of the eye
27.1%
Abnormality of the musculoskeletal system
26.7%
Abnormality of head or neck
20.4%
Abnormality of the genitourinary system
16.3%
Abnormality of the cardiovascular system
15%
Growth abnormality
13.8%
Abnormality of the ear
11.7%
Abnormality of limbs
9.2%
Abnormality of the integument
9.2%
Abnormality of the digestive system
8.3%
Abnormality of the endocrine system
6.7%
Abnormality of blood and blood-forming tissues
5.8%
Abnormality of the immune system
5.4%
Neoplasm
3.8%
Abnormality of prenatal development or birth
3.3%
Abnormality of the respiratory system
2.9%
Abnormality of the breast
1.7%
Abnormality of the voice
0.8%
Abnormal cellular phenotype
0.4%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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