EOMES
eomesodermin
Summary
This gene belongs to the TBR1 (T-box brain protein 1) sub-family of T-box genes that share the common DNA-binding T-box domain. The encoded protein is a transcription factor which is crucial for embryonic development of mesoderm and the central nervous system in vertebrates. The protein may also be necessary for the differentiation of effector CD8+ T cells which are involved in defense against viral infections. A similar gene disrupted in mice is shown to be essential during trophoblast development and gastrulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1260452233 | 3:27,758,584 | A/G | — | uncertain significance |
| rs149280214 | 3:27,758,596 | T/A | — | uncertain significance |
| rs6783101 | 3:27,758,756 | G/A | — | benign |
| rs780523872 | 3:27,758,838 | G/C | — | uncertain significance |
| rs147750278 | 3:27,758,918 | G/A | — | likely benign |
| rs1349678355 | 3:27,759,067 | G/A | — | uncertain significance |
| rs922327188 | 3:27,759,082 | G/A | — | uncertain significance |
| rs1045041330 | 3:27,759,159 | C/T | — | uncertain significance |
| rs753122342 | 3:27,759,231 | A/G | — | uncertain significance |
| rs773523432 | 3:27,760,288 | T/A | — | uncertain significance |
| rs147676215 | 3:27,760,367 | G/A | — | likely benign |
| rs760136916 | 3:27,762,936 | G/T | — | uncertain significance |
| rs1282463689 | 3:27,763,010 | C/T | — | uncertain significance |
| rs747663718 | 3:27,763,017 | C/A | — | uncertain significance |
| rs376621022 | 3:27,763,094 | T/C | — | uncertain significance |
| rs2473922644 | 3:27,763,119 | C/T | — | uncertain significance |
| rs1475618857 | 3:27,763,120 | G/T | — | uncertain significance |
| rs1198771182 | 3:27,763,121 | C/T | — | uncertain significance |
| rs1055221832 | 3:27,763,143 | C/T | — | uncertain significance |
| rs561570432 | 3:27,763,177 | G/A | — | likely benign |
| rs776913483 | 3:27,763,188 | C/T | — | uncertain significance |
| rs1313397298 | 3:27,763,242 | C/G | — | uncertain significance |
| rs200215171 | 3:27,763,350 | G/A | — | conflicting classifications of pathogenicity |
| rs777212175 | 3:27,763,362 | C/G | — | uncertain significance |
| rs2473923979 | 3:27,763,395 | T/C | — | uncertain significance |
| rs964435966 | 3:27,763,402 | A/C | — | likely benign |
| rs978035459 | 3:27,763,408 | G/C | — | likely benign |
| rs2473924183 | 3:27,763,411 | G/C | — | likely benign |
| rs2060618098 | 3:27,763,417 | G/T | — | likely benign |
| rs916686138 | 3:27,763,426 | G/A | — | likely benign |
| rs1874198 | 3:27,763,427 | G/C | — | benign |
| rs764028457 | 3:27,763,434 | C/G | — | uncertain significance |
| rs546902544 | 3:27,763,447 | C/T | — | likely benign |
| rs758047037 | 3:27,763,488 | G/A | — | uncertain significance |
| rs1357553015 | 3:27,763,509 | C/T | — | uncertain significance |
| rs529375594 | 3:27,763,515 | T/G | — | likely benign |
| rs1241081811 | 3:27,763,523 | G/A | — | uncertain significance |
| rs1408228021 | 3:27,763,574 | G/T | — | uncertain significance |
| rs765843241 | 3:27,763,575 | C/T | — | uncertain significance |
| rs1040042773 | 3:27,763,577 | G/A | — | uncertain significance |
| rs538218063 | 3:27,763,599 | C/T | — | uncertain significance |
| rs372426145 | 3:27,763,669 | C/T | — | uncertain significance |
| rs539715811 | 3:27,763,687 | A/T | — | likely benign |
| rs749340317 | 3:27,763,698 | C/A | — | uncertain significance |
| rs1161322141 | 3:27,763,724 | G/C | — | uncertain significance |
| rs2473926412 | 3:27,763,754 | G/A | — | uncertain significance |
| rs754300298 | 3:27,763,767 | G/A | — | uncertain significance |
| rs200789175 | 3:27,763,770 | G/C | — | likely benign |
| rs3806624 | 3:27,764,623 | A/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.