RC3H1
ring finger and CCCH-type domains 1
Summary
This gene encodes a protein containing RING-type and C3H1-type zinc finger motifs. The encoded protein recognizes and binds to a constitutive decay element (CDE) in the 3' UTR of mRNAs, leading to mRNA deadenylation and degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Known Variants55 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs41304550 | 1:173,906,935 | C/T | 3 prime UTR variant | — |
| rs923064442 | 1:173,907,951 | T/A | — | uncertain significance |
| rs751538952 | 1:173,908,006 | A/C | — | uncertain significance |
| rs745392105 | 1:173,910,430 | G/A | — | uncertain significance |
| rs149279771 | 1:173,910,451 | G/C | — | uncertain significance |
| rs199782255 | 1:173,910,452 | G/A | — | uncertain significance |
| rs56247945 | 1:173,910,964 | A/T | — | — |
| rs1251417444 | 1:173,912,582 | T/C | — | uncertain significance |
| rs781513399 | 1:173,912,643 | C/A | — | uncertain significance |
| rs2526812934 | 1:173,912,659 | A/G | — | uncertain significance |
| rs771606977 | 1:173,912,683 | G/A | — | uncertain significance |
| rs759733346 | 1:173,912,729 | G/C | — | uncertain significance |
| rs768947341 | 1:173,915,664 | G/C | — | uncertain significance |
| rs1303300886 | 1:173,915,714 | T/C | — | uncertain significance |
| rs576118726 | 1:173,916,524 | T/G | — | uncertain significance |
| rs771172056 | 1:173,916,528 | T/C | — | uncertain significance |
| rs144857402 | 1:173,916,530 | G/T | — | uncertain significance |
| rs199536869 | 1:173,916,549 | T/C | — | uncertain significance |
| rs147276380 | 1:173,916,689 | C/T | — | likely benign |
| rs749864169 | 1:173,916,717 | C/T | — | uncertain significance |
| rs769224082 | 1:173,916,720 | T/C | — | uncertain significance |
| rs7547280 | 1:173,917,650 | G/C | — | — |
| rs2526931749 | 1:173,921,154 | A/T | — | uncertain significance |
| rs1478891202 | 1:173,921,233 | T/C | — | uncertain significance |
| rs138013535 | 1:173,930,919 | C/T | — | uncertain significance |
| rs77941945 | 1:173,930,928 | G/C | — | likely benign |
| rs143152120 | 1:173,930,949 | G/A | — | likely benign |
| rs1659894421 | 1:173,930,984 | A/G | — | uncertain significance |
| rs1659895952 | 1:173,931,003 | G/A | — | pathogenic |
| rs1210454826 | 1:173,931,150 | A/T | — | uncertain significance |
| rs768778201 | 1:173,931,152 | T/C | — | uncertain significance |
| rs773557053 | 1:173,931,188 | C/A | — | uncertain significance |
| rs369067984 | 1:173,933,140 | G/A | — | uncertain significance |
| rs746389154 | 1:173,933,183 | G/T | — | uncertain significance |
| rs369964707 | 1:173,933,221 | A/G | — | uncertain significance |
| rs757710559 | 1:173,933,303 | T/C | — | uncertain significance |
| rs140894628 | 1:173,933,992 | C/G | — | uncertain significance |
| rs1439332198 | 1:173,934,005 | T/G | — | uncertain significance |
| rs769367900 | 1:173,934,058 | G/A | — | uncertain significance |
| rs773365344 | 1:173,934,122 | G/T | — | uncertain significance |
| rs765606057 | 1:173,934,163 | A/C | — | uncertain significance |
| rs778751928 | 1:173,934,239 | G/A | — | uncertain significance |
| rs1476698402 | 1:173,934,244 | T/A | — | uncertain significance |
| rs776760365 | 1:173,939,746 | G/A | — | uncertain significance |
| rs748191564 | 1:173,941,648 | T/G | — | uncertain significance |
| rs750296078 | 1:173,941,751 | T/C | — | uncertain significance |
| rs2527278455 | 1:173,951,920 | G/A | — | uncertain significance |
| rs72711434 | 1:173,952,711 | A/G | — | uncertain significance |
| rs2527386574 | 1:173,961,955 | T/C | — | uncertain significance |
| rs200335635 | 1:173,962,039 | T/C | — | uncertain significance |
| rs2527387814 | 1:173,962,053 | G/A | — | uncertain significance |
| rs61742286 | 1:173,962,097 | C/T | — | likely benign |
| rs12097809 | 1:173,982,672 | T/G | — | — |
| rs12063313 | 1:173,984,763 | G/A | intron variant | — |
| rs527543513 | 1:173,991,279 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.