rs397514747

This is a variant in the DDR2 gene that changes a glutamate to an lysine.

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ClinVar annotation

Pathogenic★☆☆☆

2 submitters3 publications

Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome (SMED-SL)

About DDR2

This gene encodes a member of the discoidin domain receptor subclass of the receptor tyrosine kinase (RTKs) protein family. RTKs play a key role in the communication of cells with their microenvironment. The encoded protein is a collagen-induced receptor that activates signal transduction pathways involved in cell adhesion, proliferation, and extracellular matrix remodeling. This protein is expressed in numerous cell types and may alos be involved in wound repair and regulate tumor growth and invasiveness. Mutations in this gene are the cause of short limb-hand type spondylometaepiphyseal dysplasia. [provided by RefSeq, Aug 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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