AFAP1
actin filament associated protein 1
Summary
The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
Known Variants103 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs553419087 | 4:7,763,817 | G/A | — | — |
| rs545549065 | 4:7,765,021 | C/T | — | — |
| rs114329356 | 4:7,765,501 | G/A | — | likely benign |
| rs2474698709 | 4:7,765,505 | T/C | — | uncertain significance |
| rs150681856 | 4:7,765,835 | G/A | regulatory region variant | — |
| rs1200665798 | 4:7,770,593 | C/T | — | uncertain significance |
| rs62636595 | 4:7,770,600 | A/T | — | uncertain significance |
| rs1714998789 | 4:7,770,615 | G/A | — | uncertain significance |
| rs2474730365 | 4:7,770,617 | G/A | — | uncertain significance |
| rs776677074 | 4:7,770,639 | C/T | — | uncertain significance |
| rs116834443 | 4:7,770,640 | G/A | — | likely benign |
| rs567100694 | 4:7,770,644 | G/A | — | uncertain significance |
| rs116737825 | 4:7,771,574 | A/G | intron variant | — |
| rs55698135 | 4:7,773,161 | G/A | intron variant | — |
| rs371010102 | 4:7,774,568 | C/G | — | uncertain significance |
| rs753024667 | 4:7,774,582 | C/A | — | uncertain significance |
| rs1425841560 | 4:7,774,600 | C/G | — | uncertain significance |
| rs144263460 | 4:7,774,668 | G/A | — | uncertain significance |
| rs115587641 | 4:7,774,685 | C/T | — | benign |
| rs775522048 | 4:7,774,698 | T/C | — | likely benign |
| rs139795223 | 4:7,774,707 | T/C | — | uncertain significance |
| rs376803866 | 4:7,774,709 | C/G | — | likely benign |
| rs185989039 | 4:7,776,470 | G/A | — | likely benign |
| rs767051855 | 4:7,776,481 | T/C | — | uncertain significance |
| rs780039282 | 4:7,776,489 | C/T | — | uncertain significance |
| rs571170145 | 4:7,779,869 | G/A | coding sequence variant | — |
| rs554537787 | 4:7,780,515 | G/A | — | uncertain significance |
| rs1716432488 | 4:7,780,548 | G/T | — | uncertain significance |
| rs1409081568 | 4:7,783,120 | G/T | — | uncertain significance |
| rs533448738 | 4:7,783,147 | T/C | — | uncertain significance |
| rs191882508 | 4:7,783,155 | G/T | — | uncertain significance |
| rs773999790 | 4:7,783,242 | C/A | — | uncertain significance |
| rs1195224120 | 4:7,783,252 | T/C | — | uncertain significance |
| rs375891162 | 4:7,783,275 | T/G | — | uncertain significance |
| rs368001545 | 4:7,783,339 | C/T | — | conflicting classifications of pathogenicity |
| rs35617438 | 4:7,784,085 | C/T | downstream gene variant | — |
| rs780495147 | 4:7,787,937 | G/A | — | uncertain significance |
| rs1717244471 | 4:7,787,949 | T/C | — | uncertain significance |
| rs745840369 | 4:7,787,964 | C/T | — | uncertain significance |
| rs768679907 | 4:7,788,028 | T/C | — | uncertain significance |
| rs759438734 | 4:7,795,508 | C/A | — | uncertain significance |
| rs149677383 | 4:7,797,436 | G/A | intron variant | — |
| rs767681691 | 4:7,802,221 | T/C | — | uncertain significance |
| rs146426247 | 4:7,802,257 | C/A | — | uncertain significance |
| rs370390902 | 4:7,802,263 | G/A | — | uncertain significance |
| rs1188346316 | 4:7,802,341 | C/T | — | uncertain significance |
| rs1369324558 | 4:7,811,404 | C/T | — | uncertain significance |
| rs1231613839 | 4:7,811,406 | A/C | — | uncertain significance |
| rs370402723 | 4:7,811,430 | T/G | — | uncertain significance |
| rs113904979 | 4:7,814,196 | T/C | — | — |
| rs573186562 | 4:7,816,230 | A/C | — | — |
| rs1720446266 | 4:7,817,784 | C/G | — | uncertain significance |
| rs770455087 | 4:7,817,786 | A/G | — | uncertain significance |
| rs138282327 | 4:7,826,551 | G/A | intron variant | — |
| rs2475180619 | 4:7,840,261 | T/C | — | uncertain significance |
| rs150190637 | 4:7,840,286 | C/T | — | uncertain significance |
| rs62640877 | 4:7,840,332 | G/A | — | benign |
| rs936347149 | 4:7,844,889 | C/T | — | uncertain significance |
| rs372834707 | 4:7,844,913 | C/G | — | uncertain significance |
| rs751405516 | 4:7,844,928 | G/A | — | uncertain significance |
| rs1444260487 | 4:7,844,944 | G/C | — | uncertain significance |
| rs1461109498 | 4:7,845,014 | T/C | — | uncertain significance |
| rs564143482 | 4:7,845,028 | C/G | — | uncertain significance |
| rs752776264 | 4:7,845,070 | A/C | — | uncertain significance |
| rs28520091 | 4:7,846,240 | C/T | regulatory region variant | — |
| rs4488938 | 4:7,850,903 | A/T | — | — |
| rs368353828 | 4:7,857,210 | G/A | — | uncertain significance |
| rs770523260 | 4:7,857,231 | G/A | — | uncertain significance |
| rs202167635 | 4:7,857,244 | C/G | — | uncertain significance |
| rs767803824 | 4:7,857,259 | G/A | — | uncertain significance |
| rs368688610 | 4:7,857,274 | G/C | — | uncertain significance |
| rs28729656 | 4:7,859,179 | C/G | — | — |
| rs28377405 | 4:7,859,902 | G/A | regulatory region variant | — |
| rs6816389 | 4:7,864,457 | T/C | regulatory region variant | — |
| rs62289333 | 4:7,869,428 | G/C | — | — |
| rs1438870220 | 4:7,870,401 | C/G | — | uncertain significance |
| rs754371804 | 4:7,870,438 | C/T | — | uncertain significance |
| rs7680747 | 4:7,871,623 | G/C | — | — |
| rs780599846 | 4:7,873,755 | A/C | — | uncertain significance |
| rs143249636 | 4:7,873,780 | C/G | — | uncertain significance |
| rs62289340 | 4:7,879,027 | C/A | — | — |
| rs13140108 | 4:7,886,532 | C/T | intron variant | — |
| rs28734123 | 4:7,888,412 | G/A | intron variant | — |
| rs7663205 | 4:7,889,096 | C/T | intron variant | — |
| rs7655918 | 4:7,889,301 | A/T | — | — |
| rs28494514 | 4:7,889,715 | G/A | intron variant | — |
| rs28464089 | 4:7,889,957 | C/A | intron variant | — |
| rs28752120 | 4:7,891,211 | T/A | — | — |
| rs28795989 | 4:7,891,545 | A/T | — | — |
| rs28370977 | 4:7,894,414 | T/G | regulatory region variant | — |
| rs28500712 | 4:7,896,213 | A/G | regulatory region variant | — |
| rs7686202 | 4:7,898,577 | C/T | intron variant | — |
| rs74840998 | 4:7,907,155 | G/A | regulatory region variant | — |
| rs6855532 | 4:7,908,237 | C/T | regulatory region variant | — |
| rs6850654 | 4:7,908,295 | G/T | — | — |
| rs368321760 | 4:7,912,602 | G/A | — | — |
| rs568091619 | 4:7,913,561 | G/A | — | — |
| rs34179701 | 4:7,916,182 | T/C | intron variant | — |
| rs4696780 | 4:7,919,903 | A/G | intron variant | — |
| rs11735005 | 4:7,921,008 | G/T | regulatory region variant | — |
Showing 100 of 103 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.