GAB3
GRB2 associated binding protein 3
Summary
This gene is a member of the GRB2-associated binding protein gene family. These proteins are scaffolding/docking proteins that are involved in several growth factor and cytokine signaling pathways, and they contain a pleckstrin homology domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. The protein encoded by this gene facilitates macrophage differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs5945108 | X:153,904,397 | A/G | downstream gene variant | — |
| rs145503993 | X:153,906,523 | C/T | — | uncertain significance |
| rs148492317 | X:153,908,497 | C/G | — | benign |
| rs2523478882 | X:153,924,248 | C/T | — | uncertain significance |
| rs2523478902 | X:153,924,253 | T/C | — | uncertain significance |
| rs2523478967 | X:153,924,267 | T/A | — | uncertain significance |
| rs200524211 | X:153,925,413 | A/G | — | uncertain significance |
| rs193262930 | X:153,927,772 | G/A | — | uncertain significance |
| rs782639433 | X:153,927,782 | T/A | — | uncertain significance |
| rs782580659 | X:153,928,313 | A/G | — | uncertain significance |
| rs112439069 | X:153,933,145 | A/C | intron variant | — |
| rs142516556 | X:153,937,634 | C/T | intron variant | — |
| rs138557356 | X:153,940,608 | C/T | — | uncertain significance |
| rs369854278 | X:153,940,737 | C/A | — | uncertain significance |
| rs145415472 | X:153,940,744 | G/A | — | benign |
| rs138147469 | X:153,940,821 | G/A | — | uncertain significance |
| rs184479727 | X:153,940,828 | G/A | — | uncertain significance |
| rs1557256503 | X:153,940,896 | C/T | — | uncertain significance |
| rs1188957558 | X:153,941,617 | C/A | — | uncertain significance |
| rs2523553967 | X:153,944,385 | C/T | — | uncertain significance |
| rs147290916 | X:153,944,424 | C/T | — | uncertain significance |
| rs782055968 | X:153,944,487 | C/T | — | uncertain significance |
| rs782399192 | X:153,944,568 | G/A | — | uncertain significance |
| rs2664170 | X:153,945,602 | G/A | intron variant | — |
| rs142295494 | X:153,972,357 | C/T | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.