RSRC1
arginine and serine rich coiled-coil 1
Summary
This gene encodes a member of the serine and arginine rich-related protein family. The encoded protein is involved in both constitutive and alternative mRNA splicing. This gene may be associated with schizophrenia. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]
Known Variants96 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1608101 | 3:157,833,707 | A/G | intron variant | — |
| rs9883891 | 3:157,837,643 | A/G | intron variant | — |
| rs1335486803 | 3:157,839,896 | G/T | — | pathogenic |
| rs772905880 | 3:157,839,903 | C/T | — | uncertain significance |
| rs749608883 | 3:157,839,904 | G/A | — | uncertain significance |
| rs143641214 | 3:157,839,955 | G/A | — | likely benign |
| rs2473466111 | 3:157,840,022 | A/G | — | likely benign |
| rs2473466217 | 3:157,840,063 | C/A | — | uncertain significance |
| rs144862315 | 3:157,840,065 | C/T | — | uncertain significance |
| rs746219497 | 3:157,840,088 | G/A | — | pathogenic |
| rs772577036 | 3:157,841,656 | C/T | — | uncertain significance |
| rs199775686 | 3:157,841,657 | G/T | — | uncertain significance |
| rs868818936 | 3:157,841,665 | C/T | — | pathogenic |
| rs2473470856 | 3:157,841,684 | C/T | — | uncertain significance |
| rs966266938 | 3:157,841,722 | A/G | — | uncertain significance |
| rs764704534 | 3:157,841,725 | G/A | — | uncertain significance |
| rs1183090232 | 3:157,841,728 | C/T | — | pathogenic |
| rs2473471046 | 3:157,841,732 | G/A | — | uncertain significance |
| rs141739160 | 3:157,841,743 | A/G | — | benign |
| rs1242646410 | 3:157,841,749 | C/G | — | uncertain significance |
| rs9860241 | 3:157,845,169 | G/C | — | — |
| rs1610268 | 3:157,854,408 | G/T | — | — |
| rs6441175 | 3:157,857,110 | A/G | intron variant | — |
| rs13082712 | 3:157,862,694 | T/C | — | — |
| rs183566715 | 3:157,884,080 | G/A | intron variant | — |
| rs7629432 | 3:157,895,285 | C/T | intron variant | — |
| rs827156 | 3:157,906,957 | A/G | intron variant | — |
| rs73874322 | 3:157,908,855 | G/C | intron variant | — |
| rs185589265 | 3:157,913,542 | G/T | — | — |
| rs852325 | 3:157,915,935 | G/C | — | — |
| rs827803 | 3:157,920,266 | G/T | intron variant | — |
| rs759068571 | 3:157,920,884 | G/A | — | uncertain significance |
| rs146246774 | 3:157,920,895 | C/T | — | uncertain significance |
| rs201630053 | 3:157,920,934 | C/T | — | uncertain significance |
| rs759096424 | 3:157,920,941 | G/A | — | uncertain significance |
| rs548575624 | 3:157,920,955 | C/T | — | uncertain significance |
| rs926887529 | 3:157,920,991 | A/C | — | uncertain significance |
| rs560342468 | 3:157,921,031 | G/A | — | uncertain significance |
| rs699929 | 3:157,931,837 | A/G | — | — |
| rs699927 | 3:157,932,227 | T/G | intron variant | — |
| rs73874335 | 3:157,933,483 | C/T | intron variant | — |
| rs576666495 | 3:157,935,479 | A/G | — | — |
| rs12631486 | 3:157,946,654 | A/T | — | — |
| rs144943143 | 3:157,946,851 | G/T | — | — |
| rs111066896 | 3:157,946,873 | G/A | — | — |
| rs699920 | 3:157,947,175 | G/A | — | — |
| rs61244568 | 3:157,947,184 | T/C | — | — |
| rs1724679 | 3:157,953,429 | G/T | intron variant | — |
| rs827169 | 3:157,956,878 | A/T | — | — |
| rs699918 | 3:157,958,004 | T/G | intron variant | — |
| rs827170 | 3:157,958,071 | T/A | intron variant | — |
| rs827173 | 3:157,959,530 | G/C | intron variant | — |
| rs827174 | 3:157,960,406 | G/C | — | — |
| rs180761944 | 3:157,966,630 | G/A | intron variant | — |
| rs1104288 | 3:157,967,519 | A/C | intron variant | — |
| rs1095636 | 3:157,968,637 | A/C | intron variant | — |
| rs7618071 | 3:157,974,443 | A/T | — | — |
| rs1095626 | 3:157,977,962 | T/G | — | — |
| rs2698322 | 3:157,992,636 | G/C | downstream gene variant | — |
| rs1101158 | 3:157,995,772 | T/A | upstream gene variant | — |
| rs827137 | 3:158,008,124 | C/G | — | — |
| rs1727334508 | 3:158,015,826 | A/G | — | pathogenic |
| rs1526194 | 3:158,017,859 | T/A | — | — |
| rs1526193 | 3:158,017,965 | A/G | intron variant | — |
| rs2682406 | 3:158,026,489 | T/C | — | — |
| rs1193509 | 3:158,030,243 | T/C | intron variant | — |
| rs9784311 | 3:158,030,903 | C/G | — | — |
| rs1724704 | 3:158,031,155 | T/A | regulatory region variant | — |
| rs1730008 | 3:158,035,909 | G/A | intron variant | — |
| rs827120 | 3:158,039,605 | G/A | intron variant | — |
| rs11710570 | 3:158,056,654 | T/C | intron variant | — |
| rs827134 | 3:158,069,197 | C/T | — | — |
| rs754550509 | 3:158,072,645 | G/A | — | pathogenic |
| rs775062006 | 3:158,072,694 | G/A | — | uncertain significance |
| rs28813180 | 3:158,083,918 | G/A | intron variant | — |
| rs565519865 | 3:158,089,835 | T/G | — | — |
| rs7648196 | 3:158,104,706 | A/G | intron variant | — |
| rs7430565 | 3:158,107,180 | G/A | intron variant | — |
| rs2362965 | 3:158,109,379 | T/G | — | — |
| rs9880806 | 3:158,116,453 | T/C | intron variant | — |
| rs9877909 | 3:158,144,264 | C/G | — | — |
| rs16828986 | 3:158,165,755 | A/G | intron variant | — |
| rs918747602 | 3:158,178,777 | A/G | — | uncertain significance |
| rs148607251 | 3:158,178,786 | G/C | — | uncertain significance |
| rs762779524 | 3:158,178,793 | G/A | — | likely pathogenic |
| rs10936144 | 3:158,189,962 | C/T | intron variant | — |
| rs12490052 | 3:158,191,316 | G/C | — | — |
| rs11710813 | 3:158,206,114 | C/T | intron variant | — |
| rs67286798 | 3:158,214,203 | G/T | — | — |
| rs12634907 | 3:158,226,886 | A/G | intron variant | — |
| rs544464599 | 3:158,238,263 | G/A | — | — |
| rs1595029 | 3:158,241,767 | A/C | intron variant | — |
| rs148810927 | 3:158,242,955 | G/A | intron variant | — |
| rs1714507 | 3:158,251,432 | T/C | — | — |
| rs2473646232 | 3:158,254,971 | G/A | — | uncertain significance |
| rs768465194 | 3:158,261,191 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.