rs2514392534

This variant is located in the DDRGK1 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

Inborn genetic diseases

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About DDRGK1

The protein encoded by this gene interacts with components of the ubiquitin fold modifier 1 conjugation pathway and helps prevent apoptosis in ER-stressed secretory tissues. In addition, the encoded protein regulates nuclear factor-κB activity. [provided by RefSeq, Dec 2015]

View all DDRGK1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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