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TRAF3IP1

Synonyms
FAP116, IFT54, MIP-T3, MIPT3, SLSN9
External resources
Summary
The protein encoded by this gene interacts with TNF receptor-associated factor 3, tethering it to cytoskeletal microtubules. The encoded protein is also an inhibitor of the innate type I IFN response. Defects in this gene are a cause of Senior-Loken syndrome 9.

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
18
Likely pathogenic
0
VUS
7,228
Likely benign
2,539
Benign
1,188

Patient phenotypes

Proportions of phenotypes among 18 patients carrying pathogenic or likely pathogenic variants on TRAF3IP1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
27.8%
Abnormality of the integument
22.2%
Abnormality of the cardiovascular system
16.7%
Abnormality of the eye
16.7%
Abnormality of the musculoskeletal system
16.7%
Abnormality of head or neck
11.1%
Abnormality of the ear
11.1%
Abnormality of the genitourinary system
11.1%
Abnormality of the immune system
11.1%
Abnormality of limbs
5.6%
Abnormality of the digestive system
5.6%
Abnormality of the endocrine system
5.6%
Growth abnormality
5.6%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
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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