rs41548312
This variant is located in the RFC2 gene.
▶ClinVar annotation
not provided; Colon adenocarcinoma; Sarcoma; Gastric cancer; Lymphoma; Malignant tumor of esophagus; Nonpapillary renal cell carcinoma; Lung cancer; Uterine corpus endometrial carcinoma; Cervical cancer; Clear cell carcinoma of kidney; Ovarian serous cystadenocarcinoma; Melanoma; Chronic lymphocytic leukemia/small lymphocytic lymphoma; Uterine carcinosarcoma; Acute myeloid leukemia; Familial cancer of breast
View on ClinVar →About RFC2
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]
View all RFC2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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