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TFPI2

Synonyms
PP5, REF1, TFPI-2
External resources
Summary
This gene encodes a member of the Kunitz-type serine proteinase inhibitor family. The protein can inhibit a variety of serine proteases including factor VIIa/tissue factor, factor Xa, plasmin, trypsin, chymotryspin and plasma kallikrein. This gene has been identified as a tumor suppressor gene in several types of cancer. Alternative 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
122
Likely pathogenic
0
VUS
2,322
Likely benign
1,430
Benign
0

Patient phenotypes

Proportions of phenotypes among 122 patients carring pathogenic or likely pathogenic variants on TFPI2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
30.3%
Abnormality of the cardiovascular system
21.3%
Abnormality of the ear
18.9%
Abnormality of the musculoskeletal system
17.2%
Abnormality of head or neck
14.8%
Abnormality of the eye
12.3%
Abnormality of the digestive system
9.8%
Growth abnormality
9.8%
Abnormality of the genitourinary system
9%
Abnormality of blood and blood-forming tissues
8.2%
Abnormality of prenatal development or birth
4.9%
Abnormality of the immune system
4.9%
Abnormality of limbs
4.1%
Abnormality of the endocrine system
3.3%
Neoplasm
3.3%
Abnormality of the integument
1.6%
Constitutional symptom
1.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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