| Gene ID | 7515 |
| Symbol | XRCC1 |
| Synonymous | RCC |
| Full name | X-ray repair complementing defective repair in Chinese hamster cells 1 |
| Gene description | DNA repair protein XRCC1|X-ray repair cross-complementing protein 1 |
| Cytoband | 19q13.2 |
| Gene type | protein-coding |
| Synonymous | MIM:194360; HGNC:HGNC:12828; Ensembl:ENSG00000073050; HPRD:01909; Vega:OTTHUMG00000182699 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1542G>C; p.P514P; 19:43545897-43545897 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1190C>T; p.P397L; 19:43551580-43551580 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1190C>T; p.P397L; 19:43551580-43551580 |
breast | carcinoma | Substitution - Missense |
c.783A>C; p.P261P; 19:43552837-43552837 |
breast | carcinoma | Substitution - coding silent |
c.976G>T; p.V326L; 19:43552123-43552123 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.34T>C; p.C12R; 19:43575425-43575425 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1842T>C; p.S614S; 19:43543452-43543452 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1372A>G; p.K458E; 19:43546649-43546649 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1657G>A; p.E553K; 19:43544199-43544199 |
liver | carcinoma | Substitution - Missense |
c.737G>C; p.R246T; 19:43552883-43552883 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1170C>A; p.H390Q; 19:43551600-43551600 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.912C>T; p.T304T; 19:43552187-43552187 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1103C>T; p.P368L; 19:43551667-43551667 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1270G>A; p.E424K; 19:43546907-43546907 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1414G>A; p.G472R; 19:43546607-43546607 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1563G>A; p.E521E; 19:43545876-43545876 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.580C>T; p.R194W; 19:43553422-43553422 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1563G>A; p.E521E; 19:43545876-43545876 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.322G>A; p.V108I; 19:43554738-43554738 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1759G>A; p.A587T; 19:43543641-43543641 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.618A>G; p.P206P; 19:43553075-43553075 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1200G>A; p.R400R; 19:43546977-43546977 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1892C>T; p.P631L; 19:43543402-43543402 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1171C>T; p.R391C; 19:43551599-43551599 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1896A>G; p.Q632Q; 19:43543398-43543398 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1896A>G; p.Q632Q; 19:43543398-43543398 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1171C>T; p.R391C; 19:43551599-43551599 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1233G>A; p.E411E; 19:43546944-43546944 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.224C>T; p.S75L; 19:43560941-43560941 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1270G>T; p.E424*; 19:43546907-43546907 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.513C>A; p.G171G; 19:43553489-43553489 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.536A>T; p.D179V; 19:43553466-43553466 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.380G>T; p.R127L; 19:43554680-43554680 |
skin | malignant_melanoma | Substitution - Missense |
c.504C>T; p.T168T; 19:43553498-43553498 |
skin | malignant_melanoma | Substitution - coding silent |
c.1794G>C; p.L598L; 19:43543500-43543500 |
breast | carcinoma | Substitution - coding silent |
c.1494G>A; p.Q498Q; 19:43545945-43545945 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.711+2T>G; p.?; 19:43552980-43552980 |
breast | carcinoma | Unknown |
c.920G>A; p.R307K; 19:43552179-43552179 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.869G>A; p.R290Q; 19:43552230-43552230 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1196A>G; p.Q399R; 19:43551574-43551574 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1653C>T; p.Y551Y; 19:43544203-43544203 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.243G>C; p.E81D; 19:43560922-43560922 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.400C>T; p.Q134*; 19:43554660-43554660 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.520C>T; p.R174C; 19:43553482-43553482 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.641C>T; p.A214V; 19:43553052-43553052 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1626C>A; p.F542L; 19:43544230-43544230 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.183G>A; p.G61G; 19:43560982-43560982 |
skin | malignant_melanoma | Substitution - coding silent |
c.736A>G; p.R246G; 19:43552884-43552884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.736A>G; p.R246G; 19:43552884-43552884 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.736A>G; p.R246G; 19:43552884-43552884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.787G>A; p.A263T; 19:43552833-43552833 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1381T>C; p.S461P; 19:43546640-43546640 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.385A>G; p.K129E; 19:43554675-43554675 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1185G>A; p.R395R; 19:43551585-43551585 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.765G>C; p.K255N; 19:43552855-43552855 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1870C>T; p.H624Y; 19:43543424-43543424 |
breast | carcinoma | Substitution - Missense |
c.1361C>A; p.P454H; 19:43546660-43546660 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.712-1G>T; p.?; 19:43552909-43552909 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1048C>T; p.R350W; 19:43552051-43552051 |
skin | malignant_melanoma | Substitution - Missense |
c.1048C>T; p.R350W; 19:43552051-43552051 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1384C>T; p.P462S; 19:43546637-43546637 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.70C>T; p.L24F; 19:43574984-43574984 |
breast | carcinoma | Substitution - Missense |
c.445T>G; p.F149V; 19:43553653-43553653 |
soft_tissue; striated_muscle | rhabdomyosarcoma | Substitution - Missense |
c.1498G>A; p.E500K; 19:43545941-43545941 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.52A>G; p.T18A; 19:43575002-43575002 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1136G>A; p.R379H; 19:43551634-43551634 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1804C>T; p.P602S; 19:43543490-43543490 |
skin | malignant_melanoma | Substitution - Missense |
c.254A>G; p.E85G; 19:43560911-43560911 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1446G>A; p.A482A; 19:43546087-43546087 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.898C>T; p.R300*; 19:43552201-43552201 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1264G>A; p.G422R; 19:43546913-43546913 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.808C>G; p.P270A; 19:43552812-43552812 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.548A>T; p.N183I; 19:43553454-43553454 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1360_1361CC>TT; p.P454F; 19:43546660-43546661 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1819G>A; p.V607I; 19:43543475-43543475 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1819G>A; p.V607I; 19:43543475-43543475 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.103G>C; p.A35P; 19:43574951-43574951 |
prostate | carcinoma | Substitution - Missense |
c.839G>A; p.R280H; 19:43552260-43552260 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.839G>A; p.R280H; 19:43552260-43552260 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.839G>A; p.R280H; 19:43552260-43552260 |
thyroid | other; neoplasm | Substitution - Missense |
c.1002C>T; p.F334F; 19:43552097-43552097 |
skin | malignant_melanoma | Substitution - coding silent |
c.292G>A; p.E98K; 19:43554768-43554768 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1798G>C; p.D600H; 19:43543496-43543496 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.1677G>A; p.R559R; 19:43544179-43544179 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.474A>T; p.A158A; 19:43553624-43553624 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1074G>A; p.T358T; 19:43552025-43552025 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1141G>A; p.V381M; 19:43551629-43551629 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1074G>A; p.T358T; 19:43552025-43552025 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1074G>A; p.T358T; 19:43552025-43552025 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1074G>A; p.T358T; 19:43552025-43552025 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1074G>A; p.T358T; 19:43552025-43552025 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1598A>G; p.D533G; 19:43545841-43545841 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.423C>T; p.P141P; 19:43553675-43553675 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1655G>A; p.G552E; 19:43544201-43544201 |
skin | malignant_melanoma | Substitution - Missense |
c.998C>T; p.P333L; 19:43552101-43552101 |
skin | malignant_melanoma | Substitution - Missense |
c.320G>A; p.R107H; 19:43554740-43554740 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.544G>A; p.A182T; 19:43553458-43553458 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.174G>A; p.V58V; 19:43560991-43560991 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1231G>A; p.E411K; 19:43546946-43546946 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1207A>G; p.M403V; 19:43546970-43546970 |
lung | carcinoma; undifferentiated_carcinoma | Substitution - Missense |