RNPC3
RNA binding region (RNP1, RRM) containing 3
Summary
Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 65K protein that is a component of the U12-type spliceosome. This protein contains two RNA recognition motifs (RRMs), suggesting that it may contact one of the small nuclear RNAs of the minor spliceosome. [provided by RefSeq, Jul 2008]
Known Variants48 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1570612424 | 1:104,068,716 | T/G | — | likely benign |
| rs192837663 | 1:104,068,872 | T/A | — | benign |
| rs749150289 | 1:104,068,878 | G/T | — | likely benign |
| rs1332137733 | 1:104,076,379 | C/T | — | pathogenic |
| rs1273151418 | 1:104,076,448 | T/C | — | uncertain significance |
| rs6697444 | 1:104,076,462 | C/T | — | benign |
| rs778506096 | 1:104,076,478 | A/G | — | uncertain significance |
| rs6702220 | 1:104,076,495 | A/G | — | benign |
| rs993267520 | 1:104,077,400 | G/A | — | uncertain significance |
| rs2101044774 | 1:104,077,479 | G/C | — | pathogenic |
| rs1412656190 | 1:104,078,056 | A/G | — | uncertain significance |
| rs544104212 | 1:104,078,741 | C/T | — | likely benign |
| rs939646611 | 1:104,078,805 | C/T | — | pathogenic |
| rs1388286182 | 1:104,078,806 | G/A | — | uncertain significance |
| rs184588919 | 1:104,078,809 | C/T | — | uncertain significance |
| rs2101045488 | 1:104,078,817 | G/T | — | pathogenic |
| rs2524108606 | 1:104,079,964 | T/C | — | uncertain significance |
| rs1651011127 | 1:104,079,980 | C/T | — | uncertain significance |
| rs566265700 | 1:104,079,992 | C/T | — | uncertain significance |
| rs2524108757 | 1:104,080,030 | C/T | — | uncertain significance |
| rs749762010 | 1:104,080,042 | G/A | — | uncertain significance |
| rs376314663 | 1:104,080,058 | C/G | — | uncertain significance |
| rs147499264 | 1:104,082,019 | G/A | intron variant | — |
| rs142257509 | 1:104,082,689 | A/G | intron variant | — |
| rs935958143 | 1:104,084,014 | A/G | — | likely benign |
| rs774259475 | 1:104,084,022 | C/G | — | uncertain significance |
| rs989973373 | 1:104,084,033 | C/T | — | uncertain significance |
| rs574736349 | 1:104,084,063 | G/A | — | uncertain significance |
| rs1292326578 | 1:104,085,916 | A/G | — | likely pathogenic |
| rs2524123833 | 1:104,085,940 | C/G | — | uncertain significance |
| rs2524123886 | 1:104,085,959 | A/T | — | uncertain significance |
| rs1317578725 | 1:104,085,995 | A/T | — | uncertain significance |
| rs186426068 | 1:104,086,048 | A/C | — | uncertain significance |
| rs191143343 | 1:104,086,049 | A/C | — | uncertain significance |
| rs1276427947 | 1:104,086,067 | A/G | — | uncertain significance |
| rs142108669 | 1:104,087,109 | A/C | intron variant | — |
| rs145847854 | 1:104,087,556 | C/G | — | benign |
| rs545907522 | 1:104,087,734 | C/T | — | likely benign |
| rs2101050974 | 1:104,088,890 | T/G | — | pathogenic |
| rs943636615 | 1:104,088,906 | C/T | — | uncertain significance |
| rs200083986 | 1:104,093,571 | T/C | — | uncertain significance |
| rs1297975930 | 1:104,093,577 | T/G | — | uncertain significance |
| rs370930012 | 1:104,093,621 | C/A | — | pathogenic |
| rs2524145667 | 1:104,093,622 | C/T | — | uncertain significance |
| rs2101053814 | 1:104,093,650 | A/T | — | pathogenic |
| rs768108955 | 1:104,093,668 | T/C | — | likely benign |
| rs896778133 | 1:104,093,687 | A/C | — | uncertain significance |
| rs918108896 | 1:104,094,352 | C/T | — | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.