EYA2
EYA transcriptional coactivator and phosphatase 2
Summary
This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can act as a transcriptional activator. Alternative splicing results in multiple transcript variants, but the full-length natures of all of these variants have not yet been determined. [provided by RefSeq, Jul 2009]
Known Variants53 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6124886 | 20:45,539,251 | C/T | — | — |
| rs1412957 | 20:45,557,065 | A/T | — | — |
| rs6122542 | 20:45,557,809 | A/G | intron variant | — |
| rs750140 | 20:45,565,911 | G/C | — | — |
| rs6066137 | 20:45,590,658 | C/T | intron variant | — |
| rs6063048 | 20:45,598,564 | G/A | intron variant | — |
| rs59791349 | 20:45,603,824 | C/T | intron variant | — |
| rs6063050 | 20:45,604,240 | T/C | intron variant | — |
| rs745599507 | 20:45,618,720 | G/A | — | uncertain significance |
| rs149822547 | 20:45,618,747 | G/A | — | uncertain significance |
| rs12481102 | 20:45,627,769 | C/A | — | — |
| rs769484018 | 20:45,630,079 | C/T | — | uncertain significance |
| rs773864573 | 20:45,633,591 | C/A | — | uncertain significance |
| rs755977704 | 20:45,633,648 | A/G | — | uncertain significance |
| rs556437135 | 20:45,633,687 | C/T | — | uncertain significance |
| rs116501176 | 20:45,633,702 | G/A | — | benign |
| rs3827063 | 20:45,644,416 | G/A | intron variant | — |
| rs878131 | 20:45,680,502 | A/G | intron variant | — |
| rs8125525 | 20:45,681,788 | C/T | intron variant | — |
| rs1211922780 | 20:45,700,843 | A/C | — | uncertain significance |
| rs767033621 | 20:45,700,883 | G/A | — | uncertain significance |
| rs991612630 | 20:45,702,837 | C/T | — | uncertain significance |
| rs766738869 | 20:45,702,848 | G/C | — | uncertain significance |
| rs370935322 | 20:45,702,850 | C/T | — | likely benign |
| rs781290141 | 20:45,702,864 | C/T | — | uncertain significance |
| rs371083777 | 20:45,702,897 | C/T | — | uncertain significance |
| rs578044921 | 20:45,702,920 | G/A | — | uncertain significance |
| rs142696386 | 20:45,702,944 | G/A | — | uncertain significance |
| rs866936 | 20:45,717,928 | A/G | — | benign |
| rs2515778378 | 20:45,717,941 | A/G | — | uncertain significance |
| rs780344200 | 20:45,717,967 | G/T | — | uncertain significance |
| rs373050991 | 20:45,718,006 | G/A | — | uncertain significance |
| rs2515778746 | 20:45,718,009 | A/G | — | uncertain significance |
| rs761096505 | 20:45,725,733 | G/A | — | uncertain significance |
| rs1157500678 | 20:45,725,772 | T/A | — | likely benign |
| rs4809627 | 20:45,757,655 | C/G | — | — |
| rs141317409 | 20:45,771,705 | C/T | — | uncertain significance |
| rs1298648031 | 20:45,771,713 | G/A | — | uncertain significance |
| rs747299291 | 20:45,771,719 | A/G | — | uncertain significance |
| rs1008029 | 20:45,793,650 | G/A | upstream gene variant | — |
| rs368801391 | 20:45,797,814 | G/A | — | uncertain significance |
| rs2034347152 | 20:45,801,362 | A/T | — | uncertain significance |
| rs554893450 | 20:45,801,417 | G/T | — | uncertain significance |
| rs200532247 | 20:45,801,437 | G/A | — | uncertain significance |
| rs1351585017 | 20:45,801,476 | G/T | — | uncertain significance |
| rs6124961 | 20:45,804,467 | G/C | regulatory region variant | — |
| rs138717634 | 20:45,808,514 | C/T | — | uncertain significance |
| rs2069663088 | 20:45,809,554 | A/G | — | uncertain significance |
| rs9789793 | 20:45,810,858 | T/A | intron variant | — |
| rs6018329 | 20:45,813,184 | A/G | intron variant | — |
| rs2868848 | 20:45,814,049 | A/G | — | — |
| rs2516002661 | 20:45,816,701 | C/T | — | uncertain significance |
| rs746552793 | 20:45,816,734 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.