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NXN

Synonyms
NRX, RRS2, TRG-4
External resources
Summary
This gene encodes a member of the thioredoxin superfamily, a group of small, multifunctional redox-active proteins. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. The encoded protein acts a redox-dependent regulator of the Wnt signaling pathway and is involved in cell growth and differentiation.

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
13
Likely pathogenic
0
VUS
23,612
Likely benign
9,537
Benign
2

Patient phenotypes

Proportions of phenotypes among 7 patients carrying pathogenic or likely pathogenic variants on NXN gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
28.6%
Abnormality of the eye
28.6%
Abnormality of the nervous system
28.6%
Abnormality of limbs
14.3%
Abnormality of the ear
14.3%
Abnormality of the genitourinary system
14.3%
Abnormality of the musculoskeletal system
14.3%
Growth abnormality
14.3%
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 cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the integument
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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