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SEC61A1

Synonyms
ADTKD5, HNFJ4, HSEC61, SEC61, SEC61A
External resources
Summary
The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits.

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
483
Likely benign
670
Benign
399

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SEC61A1 gene.

Phenotype class
Patients in 3billion (%)

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