| Gene ID | 7518 |
| Symbol | XRCC4 |
| Synonymous | - |
| Full name | X-ray repair complementing defective repair in Chinese hamster cells 4 |
| Gene description | DNA repair protein XRCC4|X-ray repair cross-complementing protein 4|X-ray repair, complementing defective, repair in Chinese hamster |
| Cytoband | 5q14.2 |
| Gene type | protein-coding |
| Synonymous | MIM:194363; HGNC:HGNC:12831; Ensembl:ENSG00000152422; HPRD:15951; Vega:OTTHUMG00000131319 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.182T>C; p.M61T; 5:83111070-83111070 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.138A>G; p.T46T; 5:83105057-83105057 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.535C>T; p.R179W; 5:83203604-83203604 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.588T>A; p.N196K; 5:83203657-83203657 |
breast | carcinoma | Substitution - Missense |
c.894-7G>A; p.?; 5:83353124-83353124 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.824G>A; p.R275Q; 5:83258608-83258608 |
breast | carcinoma | Substitution - Missense |
c.178G>A; p.A60T; 5:83111066-83111066 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.464G>T; p.W155L; 5:83195918-83195918 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.546G>C; p.L182L; 5:83203615-83203615 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.469delG; p.D157fs*10; 5:83195923-83195923 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.93T>G; p.G31G; 5:83105012-83105012 |
prostate | carcinoma | Substitution - coding silent |
c.107T>C; p.L36P; 5:83105026-83105026 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.264T>G; p.F88L; 5:83111152-83111152 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.367A>G; p.I123V; 5:83195821-83195821 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.455T>C; p.L152P; 5:83195909-83195909 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.638+2T>C; p.?; 5:83203709-83203709 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.985G>C; p.D329H; 5:83353222-83353222 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.256T>C; p.F86L; 5:83111144-83111144 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.902C>T; p.S301F; 5:83353139-83353139 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.428A>G; p.H143R; 5:83195882-83195882 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.478G>T; p.G160*; 5:83195932-83195932 |
skin; hand | malignant_melanoma | Substitution - Nonsense |
c.225G>A; p.L75L; 5:83111113-83111113 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.902C>A; p.S301Y; 5:83353139-83353139 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.804A>T; p.P268P; 5:83258588-83258588 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.990C>A; p.L330L; 5:83353227-83353227 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.990C>A; p.L330L; 5:83353227-83353227 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.40C>G; p.P14A; 5:83104959-83104959 |
skin | malignant_melanoma | Substitution - Missense |
c.40C>G; p.P14A; 5:83104959-83104959 |
skin | malignant_melanoma | Substitution - Missense |
c.749C>A; p.A250D; 5:83258533-83258533 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.42C>T; p.P14P; 5:83104961-83104961 |
skin | malignant_melanoma | Substitution - coding silent |
c.326G>T; p.G109V; 5:83195780-83195780 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.964C>T; p.L322L; 5:83353201-83353201 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.373G>T; p.E125*; 5:83195827-83195827 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.41C>A; p.P14H; 5:83104960-83104960 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.333C>T; p.F111F; 5:83195787-83195787 |
breast | carcinoma | Substitution - coding silent |
c.556G>T; p.E186*; 5:83203625-83203625 |
pancreas | carcinoma | Substitution - Nonsense |
c.541A>T; p.I181F; 5:83203610-83203610 |
skin | malignant_melanoma | Substitution - Missense |
c.541A>T; p.I181F; 5:83203610-83203610 |
skin | malignant_melanoma | Substitution - Missense |
c.541A>T; p.I181F; 5:83203610-83203610 |
skin | malignant_melanoma | Substitution - Missense |
c.20G>T; p.R7I; 5:83104939-83104939 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.867G>T; p.Q289H; 5:83258651-83258651 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.867G>T; p.Q289H; 5:83258651-83258651 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.940G>T; p.A314S; 5:83353177-83353177 |
liver | carcinoma | Substitution - Missense |
c.793G>A; p.D265N; 5:83258577-83258577 |
breast | carcinoma | Substitution - Missense |
c.47T>A; p.I16K; 5:83104966-83104966 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.192G>T; p.G64G; 5:83111080-83111080 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.380delT; p.C128fs*25; 5:83195834-83195834 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.69T>C; p.S23S; 5:83104988-83104988 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.158C>T; p.S53F; 5:83111046-83111046 |
skin | malignant_melanoma | Substitution - Missense |
c.537G>T; p.R179R; 5:83203606-83203606 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.658G>C; p.E220Q; 5:83204834-83204834 |
breast | carcinoma | Substitution - Missense |
c.836A>G; p.N279S; 5:83258620-83258620 |
prostate | carcinoma | Substitution - Missense |
c.483-1G>T; p.?; 5:83203551-83203551 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.344A>G; p.K115R; 5:83195798-83195798 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.279T>C; p.C93C; 5:83111167-83111167 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.279T>C; p.C93C; 5:83111167-83111167 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.431T>C; p.L144P; 5:83195885-83195885 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.921T>G; p.S307S; 5:83353158-83353158 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.288C>A; p.F96L; 5:83111176-83111176 |
breast | carcinoma | Substitution - Missense |
c.430C>T; p.L144L; 5:83195884-83195884 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.688G>A; p.D230N; 5:83204864-83204864 |
breast | carcinoma | Substitution - Missense |
c.926A>G; p.K309R; 5:83353163-83353163 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.727C>T; p.L243F; 5:83204903-83204903 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |