RRM1
ribonucleotide reductase catalytic subunit M1
Summary
This gene encodes the large and catalytic subunit of ribonucleotide reductase, an enzyme essential for the conversion of ribonucleotides into deoxyribonucleotides. A pool of available deoxyribonucleotides is important for DNA replication during S phase of the cell cycle as well as multiple DNA repair processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11030918 | 11:4,115,487 | T/C | regulatory region variant | — |
| rs12806698 | 11:4,115,974 | C/A | regulatory region variant | — |
| rs2498581340 | 11:4,123,261 | T/C | — | uncertain significance |
| rs232054 | 11:4,123,427 | C/T | — | — |
| rs2094557893 | 11:4,127,288 | A/G | — | uncertain significance |
| rs775010725 | 11:4,128,682 | T/C | — | uncertain significance |
| rs748613248 | 11:4,128,683 | A/G | — | uncertain significance |
| rs2228121 | 11:4,128,739 | T/C | — | benign |
| rs905916997 | 11:4,128,745 | A/G | — | uncertain significance |
| rs11030980 | 11:4,130,543 | C/T | — | — |
| rs753295405 | 11:4,130,874 | C/T | — | uncertain significance |
| rs376733102 | 11:4,130,917 | A/G | — | uncertain significance |
| rs67074167 | 11:4,131,580 | A/G | intron variant | — |
| rs137969593 | 11:4,132,858 | A/T | missense variant | — |
| rs377479513 | 11:4,132,862 | A/G | — | uncertain significance |
| rs780268388 | 11:4,133,185 | A/C | — | uncertain significance |
| rs2498600469 | 11:4,133,271 | C/G | — | uncertain significance |
| rs1662161 | 11:4,136,974 | A/C | — | — |
| rs1262190186 | 11:4,141,111 | A/G | — | uncertain significance |
| rs141634151 | 11:4,144,435 | C/T | — | pathogenic |
| rs2094584404 | 11:4,144,436 | G/A | — | likely pathogenic |
| rs1157114737 | 11:4,144,532 | G/A | — | uncertain significance |
| rs373032700 | 11:4,147,914 | G/A | — | uncertain significance |
| rs752041637 | 11:4,148,283 | C/T | — | uncertain significance |
| rs72555793 | 11:4,148,284 | G/A | — | likely benign |
| rs777849969 | 11:4,148,346 | C/T | — | uncertain significance |
| rs1230024579 | 11:4,148,347 | C/G | — | uncertain significance |
| rs191132554 | 11:4,148,356 | G/A | — | uncertain significance |
| rs754119679 | 11:4,148,434 | C/G | — | uncertain significance |
| rs138097785 | 11:4,148,453 | C/T | — | benign |
| rs781083706 | 11:4,148,475 | G/C | — | uncertain significance |
| rs1164413779 | 11:4,150,314 | A/G | — | uncertain significance |
| rs201133430 | 11:4,150,358 | G/T | — | uncertain significance |
| rs1015998 | 11:4,150,869 | G/A | intron variant | — |
| rs145770432 | 11:4,154,851 | T/C | — | uncertain significance |
| rs779191139 | 11:4,156,324 | A/G | — | uncertain significance |
| rs1265513472 | 11:4,156,379 | C/G | — | uncertain significance |
| rs9937 | 11:4,159,457 | A/G | synonymous variant | — |
| rs1042858 | 11:4,159,466 | G/A | synonymous variant | — |
| rs2498660639 | 11:4,159,495 | A/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.