MATN1 Back

matrilin 1, cartilage matrix protein

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NCBI Description of MATN1
This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments.

Community Annotation of MATN1 Add / Edit MATN1: 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

MATN1 is highly significantly mutated in
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MATN1 is significantly mutated in
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MATN1 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 MATN1