SH3KBP1 Chromosome X
SH3 domain containing kinase binding protein 1
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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
RS149782443
Conflicting classifications of pathogenicity
SH3KBP1-related disorder, SH3KBP1-related disorder
Health Risk
RS200596121
Conflicting classifications of pathogenicity
Thyroid cancer, nonmedullary, 1
Health Risk
RS2065933350
Conflicting classifications of pathogenicity
Health Risk
RS369126109
Conflicting classifications of pathogenicity
Health Risk
RS61744606
Conflicting classifications of pathogenicity
Health Risk
RS756363927
Conflicting classifications of pathogenicity
Health Risk
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 | — |