WDR12
WD repeat domain 12
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), which 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. This protein is highly similar to the mouse WD repeat domain 12 protein at the amino acid level. The protein encoded by this gene is a component of a nucleolar protein complex that affects maturation of the large ribosomal subunit.[provided by RefSeq, Dec 2008]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs148513392 | 2:203,744,610 | G/T | — | — |
| rs1374873094 | 2:203,745,628 | C/A | — | uncertain significance |
| rs6725887 | 2:203,745,885 | T/C | intron variant | — |
| rs1687976962 | 2:203,747,438 | G/C | — | uncertain significance |
| rs141746244 | 2:203,747,499 | C/G | — | uncertain significance |
| rs1687994835 | 2:203,748,398 | G/A | — | uncertain significance |
| rs757965964 | 2:203,748,449 | G/A | — | uncertain significance |
| rs2469076946 | 2:203,748,965 | C/G | — | uncertain significance |
| rs140491316 | 2:203,748,977 | C/T | — | uncertain significance |
| rs913821612 | 2:203,748,995 | T/C | — | uncertain significance |
| rs773841750 | 2:203,749,137 | C/T | — | uncertain significance |
| rs551182812 | 2:203,749,158 | C/T | — | uncertain significance |
| rs1820930 | 2:203,751,850 | G/A | intron variant | — |
| rs7582720 | 2:203,753,072 | T/C | intron variant | — |
| rs72934760 | 2:203,755,743 | G/A | intron variant | — |
| rs200619343 | 2:203,757,387 | T/C | — | uncertain significance |
| rs1688175297 | 2:203,757,413 | T/A | — | uncertain significance |
| rs972764311 | 2:203,759,339 | C/G | — | uncertain significance |
| rs1185687023 | 2:203,760,823 | C/T | — | uncertain significance |
| rs763238217 | 2:203,762,047 | T/C | — | uncertain significance |
| rs370236976 | 2:203,762,055 | T/C | — | uncertain significance |
| rs202163039 | 2:203,762,056 | C/T | — | uncertain significance |
| rs200857010 | 2:203,762,071 | T/C | — | uncertain significance |
| rs137884671 | 2:203,762,089 | C/T | — | uncertain significance |
| rs200409255 | 2:203,762,107 | G/A | — | uncertain significance |
| rs2468704888 | 2:203,762,128 | C/T | — | uncertain significance |
| rs139185914 | 2:203,767,145 | G/C | — | — |
| rs759366688 | 2:203,772,624 | T/C | — | uncertain significance |
| rs746259580 | 2:203,772,675 | C/T | — | likely benign |
| rs371468218 | 2:203,776,172 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.