| Gene ID | 5981 |
| Symbol | RFC1 |
| Synonymous | A1|MHCBFB|PO-GA|RECC1|RFC|RFC140 |
| Full name | replication factor C (activator 1) 1, 145kDa |
| Gene description | A1 140 kDa subunit|DNA-binding protein PO-GA|MHC binding factor, beta|RF-C 140 kDa subunit|activator 1 140 kDa subunit|activator 1 large subunit|activator 1 subunit 1|replication factor C 140 kDa subunit|replication factor C large subunit|replication fact |
| Cytoband | 4p14-p13 |
| Gene type | protein-coding |
| Synonymous | MIM:102579; HGNC:HGNC:9969; Ensembl:ENSG00000035928; HPRD:00024; Vega:OTTHUMG00000099363 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1013C>T; p.S338L; 4:39320465-39320465 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.111G>T; p.K37N; 4:39351369-39351369 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1355G>A; p.R452H; 4:39312780-39312780 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1354C>T; p.R452C; 4:39312781-39312781 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1354C>T; p.R452C; 4:39312781-39312781 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2384C>T; p.P795L; 4:39302552-39302552 |
skin; hand | malignant_melanoma | Substitution - Missense |
c.1494G>T; p.K498N; 4:39309027-39309027 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.625C>G; p.L209V; 4:39326580-39326580 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1526A>C; p.K509T; 4:39308995-39308995 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1969A>G; p.T657A; 4:39306618-39306618 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2334G>T; p.Q778H; 4:39302743-39302743 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.854G>T; p.R285M; 4:39320624-39320624 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2806C>T; p.Q936*; 4:39300023-39300023 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.3289G>T; p.E1097*; 4:39289919-39289919 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.700G>T; p.E234*; 4:39323360-39323360 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.3275C>T; p.S1092L; 4:39289933-39289933 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.699T>C; p.D233D; 4:39323361-39323361 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |