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ENC1

Synonyms
CCL28, ENC-1, KLHL35, KLHL37, NRPB, PIG10, TP53I10
External resources
Summary
This gene encodes a member of the kelch-related family of actin-binding proteins. The encoded protein plays a role in the oxidative stress response as a regulator of the transcription factor Nrf2, and expression of this gene may play a role in malignant transformation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

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
0
Likely pathogenic
0
VUS
326
Likely benign
12
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ENC1 gene.

Phenotype class
Patients in 3billion (%)

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