WASF3
WASP family member 3
Summary
This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. A pseudogene of this gene have been defined on chromosome 6. Alternative splicing results in multiple transcript variants [provided by RefSeq, May 2014]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1331012 | 13:27,115,424 | G/T | intergenic variant | — |
| rs116923630 | 13:27,131,971 | C/T | regulatory region variant | — |
| rs758928652 | 13:27,216,513 | G/A | — | uncertain significance |
| rs143970554 | 13:27,216,516 | A/G | — | uncertain significance |
| rs774059020 | 13:27,216,523 | G/A | — | uncertain significance |
| rs202214481 | 13:27,239,155 | T/C | — | benign |
| rs2542762559 | 13:27,239,170 | C/T | — | uncertain significance |
| rs1315425155 | 13:27,239,200 | A/G | — | uncertain significance |
| rs762542009 | 13:27,239,211 | C/A | — | uncertain significance |
| rs9512318 | 13:27,239,255 | G/T | — | uncertain significance |
| rs2542763041 | 13:27,239,264 | T/C | — | uncertain significance |
| rs913055938 | 13:27,239,267 | A/G | — | uncertain significance |
| rs373736425 | 13:27,241,730 | C/G | — | uncertain significance |
| rs201683994 | 13:27,246,082 | C/G | — | uncertain significance |
| rs756733732 | 13:27,250,713 | C/T | — | uncertain significance |
| rs1281746592 | 13:27,255,196 | A/G | — | uncertain significance |
| rs145774948 | 13:27,255,226 | C/T | — | uncertain significance |
| rs148532802 | 13:27,255,300 | G/A | — | uncertain significance |
| rs141429361 | 13:27,255,386 | G/A | — | likely benign |
| rs556251328 | 13:27,255,391 | C/G | — | uncertain significance |
| rs145147553 | 13:27,255,394 | C/T | — | uncertain significance |
| rs151322145 | 13:27,255,402 | C/G | — | likely benign |
| rs7332838 | 13:27,255,437 | G/A | — | benign |
| rs759410889 | 13:27,256,797 | C/T | — | uncertain significance |
| rs138554713 | 13:27,256,803 | C/T | — | uncertain significance |
| rs141305774 | 13:27,256,902 | C/G | — | likely benign |
| rs747066323 | 13:27,256,944 | C/T | — | uncertain significance |
| rs533446357 | 13:27,256,950 | C/T | — | uncertain significance |
| rs373519573 | 13:27,256,953 | C/T | — | uncertain significance |
| rs1883280524 | 13:27,256,982 | C/G | — | uncertain significance |
| rs201601591 | 13:27,256,985 | G/C | — | uncertain significance |
| rs376555572 | 13:27,257,015 | A/G | — | uncertain significance |
| rs2500184460 | 13:27,257,021 | G/C | — | uncertain significance |
| rs138080902 | 13:27,257,069 | A/G | — | benign |
| rs751929750 | 13:27,257,099 | G/A | — | uncertain significance |
| rs758369538 | 13:27,259,872 | C/T | — | uncertain significance |
| rs78164122 | 13:27,259,976 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.