SH3KBP1 Chromosome X

SH3 domain containing kinase binding protein 1
6 variants 6 Health Risk

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What This Gene Does
This gene encodes an adapter protein that contains one or more N-terminal Src homology domains, a proline rich region and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been implicated in numerous cellular processes including apoptosis, cytoskeletal rearrangement, cell adhesion and in the regulation of clathrin-dependent endocytosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]
Associated Conditions (4)
SH3KBP1-related disorder
Thyroid cancer
nonmedullary
1
Key Variants
All Variants (6)
RSID Category Clinical Significance Conditions
RS149782443 Health Risk Conflicting classifications of pathogenicity SH3KBP1-related disorder, SH3KBP1-related disorder
RS200596121 Health Risk Conflicting classifications of pathogenicity Thyroid cancer, nonmedullary, 1
RS2065933350 Health Risk Conflicting classifications of pathogenicity
RS369126109 Health Risk Conflicting classifications of pathogenicity
RS61744606 Health Risk Conflicting classifications of pathogenicity
RS756363927 Health Risk Conflicting classifications of pathogenicity
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