| Gene ID | 2547 |
| Symbol | XRCC6 |
| Synonymous | CTC75|CTCBF|G22P1|KU70|ML8|TLAA |
| Full name | X-ray repair complementing defective repair in Chinese hamster cells 6 |
| Gene description | 5'-dRP lyase Ku70|5'-deoxyribose-5-phosphate lyase Ku70|70 kDa subunit of Ku antigen|ATP-dependent DNA helicase 2 subunit 1|ATP-dependent DNA helicase II 70 kDa subunit|ATP-dependent DNA helicase II, 70 kDa subunit|CTC box binding factor 75 kDa subunit|CT |
| Cytoband | 22q13.2 |
| Gene type | protein-coding |
| Synonymous | MIM:152690; HGNC:HGNC:4055; Ensembl:ENSG00000196419; HPRD:01071; Vega:OTTHUMG00000151190 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.287C>T; p.S96L; 22:41636204-41636204 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.589+1G>T; p.?; 22:41636771-41636771 |
lung | carcinoma; adenocarcinoma | Unknown |
c.466G>A; p.D156N; 22:41636647-41636647 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.667A>G; p.I223V; 22:41637685-41637685 |
liver | carcinoma | Substitution - Missense |
c.667A>G; p.I223V; 22:41637685-41637685 |
liver | carcinoma | Substitution - Missense |
c.160G>A; p.E54K; 22:41628195-41628195 |
breast | carcinoma | Substitution - Missense |
c.667A>G; p.I223V; 22:41637685-41637685 |
liver | carcinoma | Substitution - Missense |
c.667A>G; p.I223V; 22:41637685-41637685 |
liver | carcinoma | Substitution - Missense |
c.905C>T; p.T302I; 22:41647027-41647027 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1443C>T; p.P481P; 22:41658273-41658273 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - coding silent |
c.1443C>T; p.P481P; 22:41658273-41658273 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1254A>G; p.E418E; 22:41653653-41653653 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1254A>G; p.E418E; 22:41653653-41653653 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.31G>C; p.E11Q; 22:41622035-41622035 |
breast | carcinoma | Substitution - Missense |
c.1255G>A; p.E419K; 22:41653654-41653654 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1637-1G>T; p.?; 22:41663621-41663621 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.589G>C; p.G197R; 22:41636770-41636770 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.781C>T; p.L261L; 22:41646903-41646903 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1159A>C; p.I387L; 22:41653558-41653558 |
lung | carcinoma; undifferentiated_carcinoma | Substitution - Missense |
c.60A>G; p.Q20Q; 22:41622064-41622064 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1118C>T; p.S373L; 22:41650880-41650880 |
skin | malignant_melanoma | Substitution - Missense |
c.280A>G; p.K94E; 22:41636197-41636197 |
skin | malignant_melanoma | Substitution - Missense |
c.590-2A>C; p.?; 22:41637606-41637606 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.1493T>G; p.M498R; 22:41658323-41658323 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.91A>G; p.K31E; 22:41628126-41628126 |
liver | carcinoma | Substitution - Missense |
c.1177G>T; p.E393*; 22:41653576-41653576 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1591C>T; p.P531S; 22:41661399-41661399 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.452C>T; p.A151V; 22:41636633-41636633 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1292-1G>T; p.?; 22:41656902-41656902 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1703T>C; p.I568T; 22:41663688-41663688 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1715C>T; p.T572M; 22:41663700-41663700 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.535G>C; p.D179H; 22:41636716-41636716 |
breast | carcinoma | Substitution - Missense |
c.1797G>A; p.L599L; 22:41663782-41663782 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1330A>G; p.R444G; 22:41656941-41656941 |
thyroid | carcinoma | Substitution - Missense |
c.1795C>A; p.L599M; 22:41663780-41663780 |
pancreas | carcinoma | Substitution - Missense |
c.973C>T; p.R325C; 22:41650735-41650735 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.193C>A; p.Q65K; 22:41628228-41628228 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.799A>G; p.I267V; 22:41646921-41646921 |
liver | carcinoma | Substitution - Missense |
c.343C>T; p.R115*; 22:41636524-41636524 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.1359_1378del20; p.A454fs*7; 22:41656970-41656989 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.1359_1378del20; p.A454fs*7; 22:41656970-41656989 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.347T>G; p.I116S; 22:41636528-41636528 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1636+1G>A; p.?; 22:41661445-41661445 |
skin | malignant_melanoma | Unknown |
c.1636+1G>A; p.?; 22:41661445-41661445 |
skin | malignant_melanoma | Unknown |
c.838G>T; p.A280S; 22:41646960-41646960 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1055C>T; p.P352L; 22:41650817-41650817 |
ovary | other; neoplasm | Substitution - Missense |
c.641C>T; p.S214F; 22:41637659-41637659 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.83G>A; p.G28E; 22:41628118-41628118 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.960+10G>A; p.?; 22:41647092-41647092 |
pancreas | carcinoma; adenocarcinoma | Unknown |
c.1636+1G>A; p.?; 22:41661445-41661445 |
skin | malignant_melanoma | Unknown |
c.1636+1G>A; p.?; 22:41661445-41661445 |
skin | malignant_melanoma | Unknown |
c.1635C>T; p.H545H; 22:41661443-41661443 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1279G>A; p.V427M; 22:41653678-41653678 |
eye; uveal_tract | malignant_melanoma; spindle | Substitution - Missense |
c.1637-6C>T; p.?; 22:41663616-41663616 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.1660A>T; p.R554W; 22:41663645-41663645 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.670G>A; p.A224T; 22:41637688-41637688 |
oesophagus | carcinoma | Substitution - Missense |
c.2T>C; p.M1T; 22:41622006-41622006 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.642C>T; p.S214S; 22:41637660-41637660 |
skin | malignant_melanoma | Substitution - coding silent |
c.717A>T; p.L239L; 22:41637735-41637735 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1084C>A; p.L362M; 22:41650846-41650846 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1254A>C; p.E418D; 22:41653653-41653653 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1223C>T; p.P408L; 22:41653622-41653622 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1409G>A; p.R470H; 22:41657020-41657020 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1499C>T; p.P500L; 22:41658329-41658329 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.457C>T; p.L153F; 22:41636638-41636638 |
skin | malignant_melanoma | Substitution - Missense |
c.1288C>G; p.P430A; 22:41653687-41653687 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1297C>T; p.Q433*; 22:41656908-41656908 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.796G>T; p.D266Y; 22:41646918-41646918 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.500T>A; p.M167K; 22:41636681-41636681 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.500T>A; p.M167K; 22:41636681-41636681 |
stomach | adenocarcinoma | Substitution - Missense |
c.993A>C; p.K331N; 22:41650755-41650755 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.993A>C; p.K331N; 22:41650755-41650755 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.492G>C; p.K164N; 22:41636673-41636673 |
breast | carcinoma | Substitution - Missense |
c.1060G>C; p.V354L; 22:41650822-41650822 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.283A>C; p.N95H; 22:41636200-41636200 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1016G>A; p.R339Q; 22:41650778-41650778 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1312C>T; p.P438S; 22:41656923-41656923 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.772A>T; p.R258W; 22:41637790-41637790 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.1101C>T; p.F367F; 22:41650863-41650863 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.594C>T; p.I198I; 22:41637612-41637612 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.144G>A; p.M48I; 22:41628179-41628179 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.583G>C; p.D195H; 22:41636764-41636764 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.289G>A; p.V97M; 22:41636206-41636206 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1779G>T; p.G593G; 22:41663764-41663764 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1779G>T; p.G593G; 22:41663764-41663764 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.707C>T; p.S236F; 22:41637725-41637725 |
skin | malignant_melanoma | Substitution - Missense |
c.1383G>A; p.K461K; 22:41656994-41656994 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1296C>T; p.F432F; 22:41656907-41656907 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.1020T>A; p.F340L; 22:41650782-41650782 |
skin | malignant_melanoma | Substitution - Missense |
c.342A>G; p.K114K; 22:41636523-41636523 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.982A>G; p.I328V; 22:41650744-41650744 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.947C>T; p.T316I; 22:41647069-41647069 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1435G>C; p.E479Q; 22:41658265-41658265 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.783G>A; p.L261L; 22:41646905-41646905 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.800T>C; p.I267T; 22:41646922-41646922 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.583G>T; p.D195Y; 22:41636764-41636764 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.846G>T; p.K282N; 22:41646968-41646968 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.142A>G; p.M48V; 22:41628177-41628177 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1253A>G; p.E418G; 22:41653652-41653652 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1253A>G; p.E418G; 22:41653652-41653652 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.855A>C; p.P285P; 22:41646977-41646977 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1444G>A; p.V482M; 22:41658274-41658274 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.850C>T; p.P284S; 22:41646972-41646972 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1242G>A; p.V414V; 22:41653641-41653641 |
breast | carcinoma | Substitution - coding silent |
c.809C>G; p.S270C; 22:41646931-41646931 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1525C>T; p.P509S; 22:41661333-41661333 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |