ABI3
ABI family member 3
Summary
This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are components of the Abi/WAVE complex which regulates actin polymerization. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs747109470 | 17:47,288,133 | G/A | — | uncertain significance |
| rs2043157039 | 17:47,288,138 | G/A | — | uncertain significance |
| rs627386 | 17:47,290,795 | T/A | — | — |
| rs35031462 | 17:47,294,036 | A/G | — | benign |
| rs369657954 | 17:47,294,040 | C/T | — | uncertain significance |
| rs749500177 | 17:47,294,050 | C/T | — | uncertain significance |
| rs2233370 | 17:47,294,069 | C/T | — | benign |
| rs1456294036 | 17:47,295,104 | G/A | — | uncertain significance |
| rs202087269 | 17:47,295,105 | T/A | — | uncertain significance |
| rs377358127 | 17:47,295,111 | T/C | — | uncertain significance |
| rs778395724 | 17:47,295,114 | A/G | — | uncertain significance |
| rs746880911 | 17:47,295,135 | G/T | — | uncertain significance |
| rs761778675 | 17:47,295,143 | G/A | — | uncertain significance |
| rs2043238052 | 17:47,295,199 | G/T | — | uncertain significance |
| rs911896159 | 17:47,295,206 | C/T | — | uncertain significance |
| rs2233371 | 17:47,296,961 | T/C | — | benign |
| rs1313243750 | 17:47,296,971 | G/A | — | uncertain significance |
| rs1464054531 | 17:47,297,243 | C/T | — | uncertain significance |
| rs199635084 | 17:47,297,294 | C/A | — | uncertain significance |
| rs616338 | 17:47,297,297 | T/C | missense variant | — |
| rs752243727 | 17:47,297,619 | C/G | — | uncertain significance |
| rs113201977 | 17:47,298,215 | A/G | — | — |
| rs1379178933 | 17:47,299,515 | G/A | — | uncertain significance |
| rs373253578 | 17:47,299,569 | G/T | — | uncertain significance |
| rs747472968 | 17:47,299,962 | T/C | — | uncertain significance |
| rs1203928220 | 17:47,299,985 | G/A | — | likely benign |
| rs895557686 | 17:47,300,000 | T/C | — | uncertain significance |
| rs200202572 | 17:47,300,021 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.