ENAH
ENAH actin regulator
Summary
This gene encodes a member of the enabled/ vasodilator-stimulated phosphoprotein. Members of this gene family are involved in actin-based motility. This protein is involved in regulating the assembly of actin filaments and modulates cell adhesion and motility. Alternate splice variants of this gene have been correlated with tumor invasiveness in certain tissues and these variants may serve as prognostic markers. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2016]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3795443 | 1:225,675,003 | A/G | 3 prime UTR variant | — |
| rs4653643 | 1:225,675,459 | A/G | 3 prime UTR variant | — |
| rs12043633 | 1:225,676,571 | G/A | 3 prime UTR variant | — |
| rs2039620 | 1:225,682,175 | C/A | — | — |
| rs6751 | 1:225,682,560 | G/A | 3 prime UTR variant | — |
| rs746347122 | 1:225,695,666 | G/A | — | uncertain significance |
| rs75986582 | 1:225,700,390 | G/A | — | uncertain significance |
| rs139773212 | 1:225,700,618 | C/G | — | uncertain significance |
| rs2528386234 | 1:225,700,672 | T/G | — | uncertain significance |
| rs750638145 | 1:225,702,338 | G/A | — | uncertain significance |
| rs768736137 | 1:225,702,363 | C/G | — | uncertain significance |
| rs754063416 | 1:225,702,470 | G/A | — | uncertain significance |
| rs778983588 | 1:225,702,480 | C/A | — | uncertain significance |
| rs145188989 | 1:225,702,574 | T/G | — | likely benign |
| rs200278281 | 1:225,702,588 | G/A | — | uncertain significance |
| rs1241391463 | 1:225,702,590 | C/A | — | uncertain significance |
| rs10799319 | 1:225,703,485 | A/C | — | — |
| rs12034829 | 1:225,704,287 | C/A | intron variant | — |
| rs1406664545 | 1:225,704,927 | G/A | — | uncertain significance |
| rs1290994057 | 1:225,704,978 | T/C | — | uncertain significance |
| rs2096428235 | 1:225,704,987 | G/A | — | uncertain significance |
| rs150540046 | 1:225,706,908 | G/A | — | likely benign |
| rs759441117 | 1:225,707,025 | C/A | — | uncertain significance |
| rs1334151603 | 1:225,707,027 | C/A | — | uncertain significance |
| rs761343229 | 1:225,707,049 | C/T | — | uncertain significance |
| rs374911786 | 1:225,707,104 | G/A | — | uncertain significance |
| rs535035689 | 1:225,707,230 | G/A | — | uncertain significance |
| rs538781531 | 1:225,707,266 | G/T | — | uncertain significance |
| rs1268170581 | 1:225,707,271 | G/A | — | likely benign |
| rs200848385 | 1:225,707,272 | A/G | — | likely benign |
| rs10915846 | 1:225,711,187 | G/C | — | — |
| rs7555139 | 1:225,716,241 | G/C | — | — |
| rs141332414 | 1:225,742,664 | T/C | — | uncertain significance |
| rs576861 | 1:225,744,337 | C/A | — | — |
| rs487591 | 1:225,756,751 | T/C | intron variant | — |
| rs16845098 | 1:225,781,165 | T/C | regulatory region variant | — |
| rs17502858 | 1:225,781,230 | A/G | intron variant | — |
| rs572954058 | 1:225,792,368 | G/A | — | — |
| rs2639703 | 1:225,812,911 | T/C | intron variant | — |
| rs17503834 | 1:225,836,677 | T/C | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.