GRB2
growth factor receptor bound protein 2
Summary
The protein encoded by this gene binds the epidermal growth factor receptor and contains one SH2 domain and two SH3 domains. Its two SH3 domains direct complex formation with proline-rich regions of other proteins, and its SH2 domain binds tyrosine phosphorylated sequences. This gene is similar to the Sem5 gene of C.elegans, which is involved in the signal transduction pathway. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs760319998 | 17:73,317,811 | C/T | — | uncertain significance |
| rs4402606 | 17:73,319,892 | T/A | — | — |
| rs7207618 | 17:73,321,687 | T/A | — | — |
| rs2229610 | 17:73,322,041 | G/A | — | benign |
| rs4789169 | 17:73,324,876 | A/T | — | — |
| rs28488378 | 17:73,333,997 | T/C | — | — |
| rs9900529 | 17:73,335,776 | C/G | downstream gene variant | — |
| rs9912608 | 17:73,337,031 | G/T | — | — |
| rs36023980 | 17:73,341,284 | T/G | — | — |
| rs55830221 | 17:73,353,958 | C/A | — | — |
| rs6501784 | 17:73,377,676 | C/A | intron variant | — |
| rs6501786 | 17:73,378,775 | T/G | — | — |
| rs9901434 | 17:73,388,770 | A/C | — | — |
| rs2053158 | 17:73,393,459 | T/G | — | — |
| rs12451296 | 17:73,397,483 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.