SLC29A3 Back

solute carrier family 29 (nucleoside transporters), member 3

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of SLC29A3

This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.

Community Annotation of SLC29A3 Add / Edit SLC29A3: Annotations

No community annotations yet for SLC29A3.
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

SLC29A3 is highly significantly mutated in
(none)
SLC29A3 is significantly mutated in
(none)
SLC29A3 is near significance in
(none)

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

Data details


Mutation list for SLC29A3