WDHD1
WD repeat and HMG-box DNA binding protein 1
Summary
The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Known Variants76 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1222832402 | 14:55,408,290 | T/C | — | uncertain significance |
| rs766118485 | 14:55,408,303 | T/C | — | uncertain significance |
| rs115022805 | 14:55,408,399 | T/G | — | likely benign |
| rs1595047164 | 14:55,408,409 | C/T | — | uncertain significance |
| rs114259726 | 14:55,411,152 | A/G | — | benign |
| rs6572992 | 14:55,417,216 | C/G | intron variant | — |
| rs1187889 | 14:55,417,369 | C/T | intron variant | — |
| rs143654790 | 14:55,419,772 | T/C | intron variant | — |
| rs61747434 | 14:55,422,317 | G/A | — | benign |
| rs375738819 | 14:55,422,394 | A/T | — | uncertain significance |
| rs2504639656 | 14:55,423,762 | T/A | — | uncertain significance |
| rs777349691 | 14:55,423,831 | G/T | — | uncertain significance |
| rs780304215 | 14:55,423,841 | A/G | — | uncertain significance |
| rs756551964 | 14:55,424,326 | C/T | — | uncertain significance |
| rs8011446 | 14:55,425,913 | C/T | — | — |
| rs200829692 | 14:55,429,252 | T/C | — | uncertain significance |
| rs142576091 | 14:55,429,259 | C/T | — | benign |
| rs762950965 | 14:55,429,497 | C/T | — | uncertain significance |
| rs1422771724 | 14:55,429,550 | C/A | — | uncertain significance |
| rs201605402 | 14:55,429,566 | C/T | — | uncertain significance |
| rs11846098 | 14:55,429,575 | A/G | — | benign |
| rs2504660648 | 14:55,429,676 | T/C | — | uncertain significance |
| rs771458514 | 14:55,429,719 | C/G | — | uncertain significance |
| rs370012580 | 14:55,429,725 | T/C | — | uncertain significance |
| rs771204476 | 14:55,429,781 | A/G | — | uncertain significance |
| rs139751226 | 14:55,429,796 | C/T | — | uncertain significance |
| rs772688105 | 14:55,429,797 | G/A | — | uncertain significance |
| rs757804827 | 14:55,429,835 | G/A | — | uncertain significance |
| rs528079592 | 14:55,429,844 | T/C | — | uncertain significance |
| rs1319629615 | 14:55,429,863 | G/A | — | uncertain significance |
| rs771901948 | 14:55,433,221 | T/C | — | uncertain significance |
| rs536937977 | 14:55,433,291 | G/A | — | likely benign |
| rs145612447 | 14:55,433,311 | C/T | — | uncertain significance |
| rs184673712 | 14:55,434,069 | G/A | — | uncertain significance |
| rs952526759 | 14:55,448,281 | G/C | — | uncertain significance |
| rs771511351 | 14:55,448,297 | T/C | — | uncertain significance |
| rs772366370 | 14:55,448,351 | G/A | — | uncertain significance |
| rs760509829 | 14:55,448,363 | C/T | — | uncertain significance |
| rs772759062 | 14:55,451,500 | C/T | — | uncertain significance |
| rs140770200 | 14:55,451,527 | C/G | — | likely benign |
| rs766371601 | 14:55,451,556 | C/A | — | uncertain significance |
| rs374054757 | 14:55,453,869 | T/C | — | uncertain significance |
| rs202140737 | 14:55,453,920 | C/G | — | uncertain significance |
| rs376533354 | 14:55,454,062 | C/G | — | uncertain significance |
| rs1165509435 | 14:55,455,791 | T/A | — | uncertain significance |
| rs1365719060 | 14:55,455,807 | T/C | — | likely benign |
| rs141140861 | 14:55,455,876 | T/C | — | uncertain significance |
| rs113467865 | 14:55,455,889 | C/G | — | benign |
| rs761909342 | 14:55,455,930 | C/T | — | uncertain significance |
| rs373466116 | 14:55,457,951 | G/C | — | uncertain significance |
| rs2504739927 | 14:55,457,960 | T/A | — | uncertain significance |
| rs373435535 | 14:55,457,986 | C/T | — | uncertain significance |
| rs576569686 | 14:55,458,043 | T/C | — | uncertain significance |
| rs749779210 | 14:55,458,076 | T/C | — | uncertain significance |
| rs779129674 | 14:55,458,086 | G/C | — | uncertain significance |
| rs72715573 | 14:55,459,571 | C/T | intron variant | — |
| rs1212744767 | 14:55,462,335 | T/A | — | uncertain significance |
| rs61744418 | 14:55,462,356 | C/T | — | benign |
| rs148572722 | 14:55,462,404 | T/C | — | uncertain significance |
| rs1473427698 | 14:55,462,434 | G/C | — | uncertain significance |
| rs2504752972 | 14:55,462,437 | A/C | — | uncertain significance |
| rs8020032 | 14:55,462,462 | A/G | — | benign |
| rs765678544 | 14:55,462,465 | C/T | — | uncertain significance |
| rs143976463 | 14:55,462,483 | C/T | — | uncertain significance |
| rs1375570569 | 14:55,467,226 | T/G | — | uncertain significance |
| rs375275484 | 14:55,467,312 | G/A | — | uncertain significance |
| rs746189843 | 14:55,467,619 | T/G | — | uncertain significance |
| rs1595109779 | 14:55,467,649 | C/A | — | uncertain significance |
| rs138410771 | 14:55,468,812 | T/A | — | likely benign |
| rs2504769541 | 14:55,468,827 | T/G | — | uncertain significance |
| rs534880123 | 14:55,474,068 | A/G | — | uncertain significance |
| rs116117710 | 14:55,475,038 | T/G | — | benign |
| rs569724120 | 14:55,475,062 | G/T | — | uncertain significance |
| rs150906260 | 14:55,477,089 | G/A | — | benign |
| rs375834361 | 14:55,477,098 | C/T | — | likely benign |
| rs28489712 | 14:55,483,786 | A/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.