RFC2
replication factor C subunit 2
Summary
This gene encodes a member of the activator 1 small subunits family. The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins, proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). Replication factor C, also called activator 1, is a protein complex consisting of five distinct subunits. This gene encodes the 40 kD subunit, which has been shown to be responsible for binding ATP and may help promote cell survival. Disruption of this gene is associated with Williams syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene of this gene has been defined on chromosome 2. [provided by RefSeq, Jul 2013]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs538153646 | 7:73,645,684 | C/T | — | — |
| rs139636296 | 7:73,646,449 | G/A | — | likely benign |
| rs149316712 | 7:73,646,469 | C/T | — | likely benign |
| rs777346846 | 7:73,646,521 | A/C | — | uncertain significance |
| rs1230464823 | 7:73,646,528 | T/C | — | uncertain significance |
| rs782482706 | 7:73,649,947 | T/A | — | uncertain significance |
| rs148392548 | 7:73,651,704 | G/A | — | likely benign |
| rs782078961 | 7:73,651,752 | T/G | — | likely benign |
| rs1805390 | 7:73,653,245 | G/A | — | benign |
| rs2487483973 | 7:73,653,254 | T/A | — | uncertain significance |
| rs3135684 | 7:73,653,317 | G/A | — | likely benign |
| rs781801010 | 7:73,654,290 | G/A | — | uncertain significance |
| rs150469828 | 7:73,654,315 | C/T | — | uncertain significance |
| rs548294232 | 7:73,654,342 | C/T | — | benign |
| rs782293781 | 7:73,654,344 | A/G | — | uncertain significance |
| rs1805392 | 7:73,654,360 | T/G | — | benign |
| rs1195722037 | 7:73,654,375 | C/T | — | uncertain significance |
| rs782523247 | 7:73,654,376 | G/A | — | likely benign |
| rs781896174 | 7:73,654,389 | G/A | — | uncertain significance |
| rs782505048 | 7:73,654,396 | G/A | — | uncertain significance |
| rs781826115 | 7:73,657,567 | G/A | — | likely benign |
| rs200629497 | 7:73,657,575 | T/C | — | uncertain significance |
| rs1275627824 | 7:73,657,584 | G/A | — | likely benign |
| rs111490006 | 7:73,661,039 | A/T | — | benign |
| rs199971873 | 7:73,661,083 | C/T | — | uncertain significance |
| rs782584085 | 7:73,663,333 | A/G | — | likely benign |
| rs782807754 | 7:73,663,434 | G/A | — | likely benign |
| rs41548312 | 7:73,663,451 | G/A | — | benign |
| rs782256983 | 7:73,664,110 | C/T | — | uncertain significance |
| rs144214608 | 7:73,664,114 | C/T | — | benign |
| rs375193932 | 7:73,666,762 | T/C | — | likely benign |
| rs1363917129 | 7:73,668,608 | G/A | — | likely benign |
| rs11538014 | 7:73,668,615 | G/A | — | benign |
| rs376625414 | 7:73,668,647 | C/A | — | likely benign |
| rs782571058 | 7:73,668,649 | G/A | — | uncertain significance |
| rs782246696 | 7:73,668,667 | T/C | — | uncertain significance |
| rs150851734 | 7:73,668,699 | G/T | — | benign |
| rs782510398 | 7:73,668,708 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.