rs193302860

This is a variant in the UNKL gene that changes a threonine to an methionine.

▶

ClinVar annotation

Uncertain Significance★★★☆
7 submitters8 publications

GNPTG-mucolipidosis

View on ClinVar →

About UNKL

This gene encodes a RING finger protein that may function in Rac signaling. It can bind to Brg/Brm-associated factor 60b and can promote its ubiquitination. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013]

View all UNKL variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…