| Gene ID | 7517 |
| Symbol | XRCC3 |
| Synonymous | CMM6 |
| Full name | X-ray repair complementing defective repair in Chinese hamster cells 3 |
| Gene description | DNA repair protein XRCC3|X-ray repair cross-complementing protein 3 |
| Cytoband | 14q32.3 |
| Gene type | protein-coding |
| Synonymous | MIM:600675; HGNC:HGNC:12830; Ensembl:ENSG00000126215; HPRD:07201; Vega:OTTHUMG00000169228 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.761T>C; p.L254P; 14:103699377-103699377 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.123C>T; p.L41L; 14:103708592-103708592 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.567C>A; p.T189T; 14:103699571-103699571 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.228_229insC; p.T77fs*28; 14:103707180-103707181 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.889C>T; p.L297L; 14:103698950-103698950 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.768C>T; p.I256I; 14:103699370-103699370 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.903C>A; p.L301L; 14:103698936-103698936 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.900G>A; p.R300R; 14:103698939-103698939 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.548A>C; p.H183P; 14:103703186-103703186 |
liver | carcinoma | Substitution - Missense |
c.485G>A; p.R162H; 14:103703249-103703249 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.36T>G; p.I12M; 14:103711052-103711052 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.153A>G; p.R51R; 14:103708562-103708562 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.205C>A; p.H69N; 14:103707204-103707204 |
liver | carcinoma | Substitution - Missense |
c.666A>G; p.E222E; 14:103699472-103699472 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.666A>G; p.E222E; 14:103699472-103699472 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.1013G>A; p.R338Q; 14:103698826-103698826 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1013G>A; p.R338Q; 14:103698826-103698826 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.722C>T; p.T241M; 14:103699416-103699416 |
thyroid | other; neoplasm | Substitution - Missense |
c.722C>T; p.T241M; 14:103699416-103699416 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>T; p.T241M; 14:103699416-103699416 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.822-2A>G; p.?; 14:103699019-103699019 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Unknown |
c.133G>A; p.E45K; 14:103708582-103708582 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.186C>T; p.I62I; 14:103708529-103708529 |
skin | malignant_melanoma | Substitution - coding silent |
c.684C>T; p.S228S; 14:103699454-103699454 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.965A>C; p.H322P; 14:103698874-103698874 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.611G>A; p.R204Q; 14:103699527-103699527 |
ovary | other; neoplasm | Substitution - Missense |
c.295C>T; p.L99L; 14:103707114-103707114 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.68C>T; p.S23L; 14:103708647-103708647 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.68C>T; p.S23L; 14:103708647-103708647 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.975delC; p.S326fs*>21; 14:103698864-103698864 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.975delC; p.S326fs*>21; 14:103698864-103698864 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.81T>G; p.V27V; 14:103708634-103708634 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.132C>T; p.P44P; 14:103708583-103708583 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.685G>A; p.A229T; 14:103699453-103699453 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.816G>T; p.P272P; 14:103699138-103699138 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.774+2T>C; p.?; 14:103699362-103699362 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.352C>T; p.L118L; 14:103707057-103707057 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.322C>T; p.R108C; 14:103707087-103707087 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.924C>T; p.L308L; 14:103698915-103698915 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.924C>T; p.L308L; 14:103698915-103698915 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.975_976insC; p.S326fs*>22; 14:103698863-103698864 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.113T>C; p.L38P; 14:103708602-103708602 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1018A>T; p.T340S; 14:103698821-103698821 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.543C>T; p.I181I; 14:103703191-103703191 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |