WDR7
WD repeat domain 7
Summary
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) that may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein forms the beta subunit of rabconnectin-3 and binds directly with Rab3A GDP/GTP exchange protein and indirectly with Rab3A GDP/GTP activating protein; these proteins are regulators of Rab3 small G protein family members involved in control of the calcium-dependant exocytosis of neurotransmitters. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Known Variants82 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs141522942 | 18:54,339,849 | G/A | — | uncertain significance |
| rs139767150 | 18:54,349,938 | G/A | — | uncertain significance |
| rs140122275 | 18:54,349,960 | C/T | — | likely benign |
| rs150350647 | 18:54,353,212 | G/A | — | benign |
| rs1235594512 | 18:54,354,125 | T/A | — | uncertain significance |
| rs374209553 | 18:54,354,192 | C/G | — | uncertain significance |
| rs2511515465 | 18:54,358,468 | T/A | — | uncertain significance |
| rs2511524149 | 18:54,361,893 | G/T | — | uncertain significance |
| rs749181488 | 18:54,361,970 | G/A | — | uncertain significance |
| rs1039432240 | 18:54,361,979 | G/A | — | uncertain significance |
| rs2144637203 | 18:54,362,216 | G/A | — | uncertain significance |
| rs535813096 | 18:54,362,233 | T/C | — | likely benign |
| rs949907538 | 18:54,362,277 | A/G | — | uncertain significance |
| rs766058691 | 18:54,362,346 | G/A | — | uncertain significance |
| rs750295159 | 18:54,363,517 | A/G | — | uncertain significance |
| rs2430907 | 18:54,377,738 | A/G | intron variant | — |
| rs1598986524 | 18:54,385,234 | C/T | — | uncertain significance |
| rs376733707 | 18:54,385,345 | G/A | — | uncertain significance |
| rs2511567194 | 18:54,385,367 | T/C | — | uncertain significance |
| rs17750015 | 18:54,397,622 | T/C | intron variant | — |
| rs557586406 | 18:54,398,650 | T/C | — | uncertain significance |
| rs76036204 | 18:54,423,810 | A/G | — | benign |
| rs138399196 | 18:54,423,856 | G/T | — | likely benign |
| rs2511452658 | 18:54,423,949 | A/T | — | uncertain significance |
| rs2511452826 | 18:54,424,008 | C/A | — | uncertain significance |
| rs376283750 | 18:54,424,036 | C/G | — | uncertain significance |
| rs2043899722 | 18:54,424,105 | G/C | — | uncertain significance |
| rs1008361021 | 18:54,424,157 | C/G | — | uncertain significance |
| rs1261954815 | 18:54,424,168 | T/C | — | uncertain significance |
| rs2511453282 | 18:54,424,240 | T/A | — | uncertain significance |
| rs758950980 | 18:54,424,265 | A/G | — | uncertain significance |
| rs150424266 | 18:54,424,267 | G/A | — | uncertain significance |
| rs762954821 | 18:54,424,307 | A/G | — | uncertain significance |
| rs140380861 | 18:54,424,321 | G/A | — | uncertain significance |
| rs113109461 | 18:54,424,428 | G/T | — | uncertain significance |
| rs372037573 | 18:54,424,504 | A/G | — | likely benign |
| rs772875519 | 18:54,424,507 | A/G | — | uncertain significance |
| rs930892803 | 18:54,426,103 | A/G | — | uncertain significance |
| rs572570066 | 18:54,430,080 | G/A | — | — |
| rs2044250283 | 18:54,444,088 | A/G | — | uncertain significance |
| rs370112032 | 18:54,446,696 | G/C | — | uncertain significance |
| rs767046988 | 18:54,446,700 | C/T | — | uncertain significance |
| rs34678096 | 18:54,446,735 | C/T | — | likely benign |
| rs757369706 | 18:54,446,770 | G/T | — | uncertain significance |
| rs756108446 | 18:54,448,888 | G/A | — | uncertain significance |
| rs758726098 | 18:54,483,262 | C/T | — | uncertain significance |
| rs371792712 | 18:54,483,268 | T/G | — | uncertain significance |
| rs2511538596 | 18:54,483,294 | A/G | — | uncertain significance |
| rs9957639 | 18:54,536,935 | A/C | downstream gene variant | — |
| rs774872793 | 18:54,547,231 | C/T | — | uncertain significance |
| rs770323674 | 18:54,547,232 | G/A | — | uncertain significance |
| rs373190563 | 18:54,547,330 | A/G | — | uncertain significance |
| rs1296656080 | 18:54,570,798 | G/C | — | — |
| rs202150376 | 18:54,591,219 | G/A | — | uncertain significance |
| rs755947916 | 18:54,591,240 | T/C | — | uncertain significance |
| rs35111840 | 18:54,591,256 | T/C | — | benign |
| rs781610410 | 18:54,591,284 | G/A | — | uncertain significance |
| rs761722912 | 18:54,591,317 | G/A | — | uncertain significance |
| rs142408569 | 18:54,591,326 | A/C | — | uncertain significance |
| rs375099978 | 18:54,591,338 | A/G | — | uncertain significance |
| rs371366022 | 18:54,603,026 | A/G | — | uncertain significance |
| rs535927286 | 18:54,603,053 | G/A | — | uncertain significance |
| rs148451297 | 18:54,603,110 | G/T | — | uncertain significance |
| rs34219015 | 18:54,603,118 | C/A | — | benign |
| rs2511721566 | 18:54,605,782 | C/G | — | uncertain significance |
| rs2511721760 | 18:54,605,867 | T/A | — | uncertain significance |
| rs150587452 | 18:54,605,908 | G/A | — | uncertain significance |
| rs370810858 | 18:54,606,551 | A/G | — | uncertain significance |
| rs139596592 | 18:54,606,574 | A/G | — | likely benign |
| rs9951535 | 18:54,626,604 | G/T | downstream gene variant | — |
| rs1295920531 | 18:54,629,677 | T/C | — | uncertain significance |
| rs2047350872 | 18:54,629,680 | T/C | — | uncertain significance |
| rs1326181237 | 18:54,629,705 | T/C | — | uncertain significance |
| rs780171730 | 18:54,629,714 | G/A | — | uncertain significance |
| rs773775936 | 18:54,629,744 | G/A | — | uncertain significance |
| rs114029796 | 18:54,671,956 | A/G | regulatory region variant | — |
| rs200886080 | 18:54,687,979 | A/G | — | uncertain significance |
| rs771983661 | 18:54,694,275 | C/T | — | uncertain significance |
| rs962221073 | 18:54,694,289 | C/T | — | uncertain significance |
| rs75688042 | 18:54,694,333 | C/A | — | benign |
| rs750896747 | 18:54,694,391 | G/A | — | uncertain significance |
| rs761236292 | 18:54,694,394 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.