RFC1
replication factor C subunit 1
Summary
This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, binds to the 3' end of primers, and promotes coordinated synthesis of both strands. It may also have a role in telomere stability. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]
Known Variants98 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs17754 | 4:39,289,308 | G/C | downstream gene variant | — |
| rs149767968 | 4:39,290,383 | A/T | — | uncertain significance |
| rs755561864 | 4:39,290,443 | G/A | — | uncertain significance |
| rs17288820 | 4:39,290,462 | T/C | — | benign |
| rs1288643281 | 4:39,291,494 | C/G | — | uncertain significance |
| rs758666616 | 4:39,291,553 | G/A | — | uncertain significance |
| rs768056946 | 4:39,293,302 | C/T | — | uncertain significance |
| rs2475480181 | 4:39,293,365 | A/G | — | uncertain significance |
| rs2475480275 | 4:39,293,390 | C/T | — | uncertain significance |
| rs774793398 | 4:39,293,411 | C/A | — | uncertain significance |
| rs763600225 | 4:39,293,414 | G/A | — | uncertain significance |
| rs1737694099 | 4:39,293,432 | A/C | — | uncertain significance |
| rs766512359 | 4:39,293,444 | T/C | — | uncertain significance |
| rs17288729 | 4:39,295,333 | G/T | — | — |
| rs6531706 | 4:39,296,167 | T/C | downstream gene variant | — |
| rs755911170 | 4:39,297,252 | G/A | — | uncertain significance |
| rs749239449 | 4:39,297,270 | C/T | — | uncertain significance |
| rs17335452 | 4:39,297,328 | G/T | — | benign |
| rs1469849381 | 4:39,297,334 | T/G | — | uncertain significance |
| rs2066788 | 4:39,301,605 | G/C | — | benign |
| rs752627380 | 4:39,301,676 | G/A | — | uncertain significance |
| rs2475507533 | 4:39,301,879 | C/T | — | pathogenic |
| rs780591988 | 4:39,301,946 | T/C | — | uncertain significance |
| rs2475507972 | 4:39,301,955 | A/G | — | uncertain significance |
| rs2066786 | 4:39,302,029 | T/C | — | benign |
| rs12500277 | 4:39,302,247 | T/C | upstream gene variant | — |
| rs2475515249 | 4:39,303,896 | A/G | — | pathogenic |
| rs2066782 | 4:39,303,925 | A/G | — | benign |
| rs764625447 | 4:39,303,932 | G/C | — | uncertain significance |
| rs946365296 | 4:39,303,939 | C/G | — | uncertain significance |
| rs1738404010 | 4:39,303,973 | C/G | — | uncertain significance |
| rs370085283 | 4:39,303,996 | C/T | — | uncertain significance |
| rs144320551 | 4:39,304,172 | G/T | — | uncertain significance |
| rs762605626 | 4:39,304,176 | T/A | — | uncertain significance |
| rs1275594880 | 4:39,304,199 | A/G | — | uncertain significance |
| rs767280898 | 4:39,304,406 | T/G | — | uncertain significance |
| rs748839045 | 4:39,304,422 | T/C | — | uncertain significance |
| rs558110225 | 4:39,304,449 | T/C | — | uncertain significance |
| rs17335299 | 4:39,304,698 | C/T | — | likely benign |
| rs142517282 | 4:39,304,747 | G/A | — | uncertain significance |
| rs11932767 | 4:39,306,471 | C/G | — | benign |
| rs76241377 | 4:39,306,480 | A/G | — | benign |
| rs761874961 | 4:39,306,494 | T/C | — | uncertain significance |
| rs2109618140 | 4:39,306,533 | A/T | — | uncertain significance |
| rs2475526388 | 4:39,306,542 | C/T | — | uncertain significance |
| rs747174315 | 4:39,308,216 | C/A | — | uncertain significance |
| rs768524441 | 4:39,308,247 | C/T | — | uncertain significance |
| rs766790092 | 4:39,308,270 | G/A | — | uncertain significance |
| rs147227437 | 4:39,308,301 | C/T | — | uncertain significance |
| rs768491668 | 4:39,308,312 | C/T | — | uncertain significance |
| rs748232846 | 4:39,310,271 | C/T | — | uncertain significance |
| rs989070824 | 4:39,310,331 | C/T | — | uncertain significance |
| rs780401677 | 4:39,310,339 | T/C | — | uncertain significance |
| rs2066791 | 4:39,310,349 | T/C | — | benign |
| rs183190812 | 4:39,310,505 | T/C | — | uncertain significance |
| rs145113928 | 4:39,314,478 | G/A | — | uncertain significance |
| rs757709074 | 4:39,314,488 | G/T | — | likely benign |
| rs6531711 | 4:39,316,791 | T/C | intron variant | — |
| rs200654181 | 4:39,318,564 | T/C | — | uncertain significance |
| rs552225009 | 4:39,318,571 | T/G | — | uncertain significance |
| rs1035947105 | 4:39,318,576 | G/A | — | pathogenic |
| rs2600447 | 4:39,318,591 | G/A | — | pathogenic |
| rs138918161 | 4:39,318,612 | G/A | — | uncertain significance |
| rs776147227 | 4:39,322,022 | C/T | — | uncertain significance |
| rs567126430 | 4:39,322,046 | G/A | — | likely benign |
| rs137867721 | 4:39,322,061 | T/C | — | benign |
| rs938879469 | 4:39,322,089 | C/G | — | uncertain significance |
| rs1157194176 | 4:39,322,954 | A/G | — | uncertain significance |
| rs142846941 | 4:39,322,965 | C/T | — | likely benign |
| rs746033187 | 4:39,322,966 | G/A | — | uncertain significance |
| rs201358782 | 4:39,322,975 | G/A | — | uncertain significance |
| rs752137582 | 4:39,324,999 | T/A | — | uncertain significance |
| rs532718208 | 4:39,328,187 | G/A | — | uncertain significance |
| rs376166947 | 4:39,328,215 | C/T | — | uncertain significance |
| rs1205077506 | 4:39,329,236 | T/C | — | uncertain significance |
| rs766928118 | 4:39,329,281 | T/C | — | uncertain significance |
| rs1739849007 | 4:39,329,310 | T/C | — | uncertain significance |
| rs771216082 | 4:39,329,359 | T/C | — | likely benign |
| rs146652791 | 4:39,329,376 | T/A | — | uncertain significance |
| rs7658917 | 4:39,334,387 | T/A | — | — |
| rs2306596 | 4:39,343,940 | C/A | — | benign |
| rs145820966 | 4:39,343,994 | T/C | — | uncertain significance |
| rs752508090 | 4:39,343,995 | G/C | — | uncertain significance |
| rs757953728 | 4:39,343,997 | C/T | — | uncertain significance |
| rs375316955 | 4:39,344,015 | T/C | — | uncertain significance |
| rs780617627 | 4:39,344,043 | G/A | — | uncertain significance |
| rs1248660560 | 4:39,344,063 | T/C | — | uncertain significance |
| rs199870202 | 4:39,344,093 | T/A | — | benign |
| rs762801694 | 4:39,347,083 | C/T | — | uncertain significance |
| rs367640155 | 4:39,347,100 | T/C | — | likely benign |
| rs11735027 | 4:39,347,498 | A/G | intron variant | — |
| rs765960748 | 4:39,353,017 | T/A | — | uncertain significance |
| rs61759896 | 4:39,353,047 | C/T | — | likely benign |
| rs4975007 | 4:39,353,122 | C/T | — | benign |
| rs146510372 | 4:39,357,803 | G/A | intron variant | — |
| rs16995255 | 4:39,364,688 | C/G | regulatory region variant | — |
| rs78773383 | 4:39,365,720 | A/G | — | — |
| rs6844176 | 4:39,366,590 | T/C | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.