rs549444803

This variant is located in the UBE2Q1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About UBE2Q1

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s), and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is 98% identical to the mouse counterpart. [provided by RefSeq, Jul 2008]

View all UBE2Q1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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