BLM Back

Bloom syndrome

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of BLM
The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination.

Community Annotation of BLM Add / Edit BLM: Annotations

No community annotations yet for BLM.
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

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

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

Data details


• Mutation list for BLM