SLC19A2 Back

solute carrier family 19 (thiamine transporter), member 2

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NCBI Description of SLC19A2

This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness.

Community Annotation of SLC19A2 Add / Edit SLC19A2: Annotations

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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

SLC19A2 is highly significantly mutated in
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SLC19A2 is significantly mutated in
(none)
SLC19A2 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for SLC19A2