WDR49
WD repeat domain 49
Summary
This gene encodes a member of the WD repeat protein family with nine WD repeats. 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
Known Variants60 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs151139703 | 3:167,196,695 | T/A | — | uncertain significance |
| rs1415640405 | 3:167,196,744 | C/G | — | uncertain significance |
| rs761148435 | 3:167,196,772 | A/G | — | uncertain significance |
| rs112523883 | 3:167,215,779 | G/A | — | — |
| rs1751503373 | 3:167,217,943 | T/C | — | uncertain significance |
| rs1332761802 | 3:167,217,955 | G/A | — | uncertain significance |
| rs1216366151 | 3:167,217,965 | G/T | — | uncertain significance |
| rs2475161165 | 3:167,217,980 | C/T | — | uncertain significance |
| rs1052017894 | 3:167,218,078 | C/G | — | uncertain significance |
| rs1242768570 | 3:167,223,108 | T/C | — | uncertain significance |
| rs1233481525 | 3:167,223,153 | A/T | — | uncertain significance |
| rs143304878 | 3:167,223,184 | A/G | — | uncertain significance |
| rs1752480664 | 3:167,240,124 | T/C | — | uncertain significance |
| rs199917200 | 3:167,240,151 | G/C | — | uncertain significance |
| rs202225646 | 3:167,240,215 | C/T | — | likely benign |
| rs149865236 | 3:167,245,655 | T/C | — | likely benign |
| rs766751099 | 3:167,245,661 | A/G | — | uncertain significance |
| rs139773238 | 3:167,245,724 | T/C | — | uncertain significance |
| rs772052935 | 3:167,245,726 | C/T | — | likely benign |
| rs193921101 | 3:167,245,747 | G/T | — | uncertain significance |
| rs139588696 | 3:167,245,765 | G/A | — | uncertain significance |
| rs945930972 | 3:167,245,799 | A/T | — | uncertain significance |
| rs764155272 | 3:167,245,803 | C/A | — | uncertain significance |
| rs766258174 | 3:167,246,907 | G/C | — | uncertain significance |
| rs369559289 | 3:167,246,967 | T/C | — | uncertain significance |
| rs2475245532 | 3:167,246,983 | A/G | — | uncertain significance |
| rs143989688 | 3:167,246,997 | G/T | — | uncertain significance |
| rs532182042 | 3:167,248,948 | T/C | — | uncertain significance |
| rs201984726 | 3:167,248,971 | T/C | — | uncertain significance |
| rs199677479 | 3:167,248,986 | C/T | — | likely benign |
| rs151083851 | 3:167,248,995 | G/A | — | likely benign |
| rs2475252272 | 3:167,249,023 | A/G | — | uncertain significance |
| rs376902900 | 3:167,249,038 | C/A | — | uncertain significance |
| rs996575282 | 3:167,250,709 | C/T | — | uncertain significance |
| rs1752901378 | 3:167,250,751 | C/G | — | uncertain significance |
| rs751754016 | 3:167,254,694 | A/G | — | uncertain significance |
| rs778659484 | 3:167,254,730 | A/G | — | uncertain significance |
| rs763057377 | 3:167,254,784 | T/C | — | uncertain significance |
| rs1398225840 | 3:167,254,787 | C/T | — | uncertain significance |
| rs758412958 | 3:167,272,480 | C/G | — | uncertain significance |
| rs1413574313 | 3:167,277,866 | C/T | — | uncertain significance |
| rs368382865 | 3:167,277,871 | C/A | — | uncertain significance |
| rs141496184 | 3:167,277,887 | G/A | — | uncertain significance |
| rs780595172 | 3:167,277,916 | C/T | — | uncertain significance |
| rs201206022 | 3:167,277,932 | C/T | — | uncertain significance |
| rs138176013 | 3:167,277,949 | T/G | — | uncertain significance |
| rs756907318 | 3:167,277,980 | A/G | — | uncertain significance |
| rs143718057 | 3:167,277,985 | G/A | — | uncertain significance |
| rs55853354 | 3:167,283,842 | A/G | intron variant | — |
| rs2475383040 | 3:167,293,925 | C/G | — | uncertain significance |
| rs201698456 | 3:167,319,938 | G/T | — | uncertain significance |
| rs773702014 | 3:167,320,043 | T/C | — | uncertain significance |
| rs144503428 | 3:167,322,104 | G/A | — | likely benign |
| rs199755114 | 3:167,322,157 | T/C | — | uncertain significance |
| rs146804108 | 3:167,322,164 | G/A | — | uncertain significance |
| rs150838139 | 3:167,341,871 | A/G | intron variant | — |
| rs2475514182 | 3:167,344,907 | C/T | — | likely benign |
| rs7627289 | 3:167,348,838 | G/A | intron variant | — |
| rs6444447 | 3:167,349,004 | C/T | intron variant | — |
| rs6807306 | 3:167,373,858 | C/G | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.