NHLRC1 Back

NHL repeat containing 1

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of NHLRC1
The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).

Community Annotation of NHLRC1 Add / Edit NHLRC1: Annotations

No community annotations yet for NHLRC1.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

NHLRC1 is highly significantly mutated in
(none)
NHLRC1 is significantly mutated in
(none)
NHLRC1 is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for NHLRC1