| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 7014 |
Name | TERF2 |
Synonymous | telomeric repeat binding factor 2;TERF2;telomeric repeat binding factor 2 |
Definition | TTAGGG repeat-binding factor 2|telomeric DNA-binding protein|telomeric repeat binding protein 2|telomeric repeat-binding factor 2 |
Position | 16q22.1 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1233G>A; p.W411*; 16:69361471-69361471 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.573G>C; p.L191L; 16:69370624-69370624 |
pancreas | carcinoma | Substitution - coding silent |
c.573G>C; p.L191L; 16:69370624-69370624 |
pancreas | carcinoma | Substitution - coding silent |
c.573G>C; p.L191L; 16:69370624-69370624 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.514G>C; p.E172Q; 16:69372322-69372322 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.1015T>C; p.S339P; 16:69367006-69367006 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.829C>T; p.R277W; 16:69367192-69367192 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1298A>G; p.Q433R; 16:69361406-69361406 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.377T>G; p.L126R; 16:69384683-69384683 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.755G>C; p.S252T; 16:69368442-69368442 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1336A>C; p.K446Q; 16:69357526-69357526 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.628C>T; p.Q210*; 16:69370569-69370569 |
skin | malignant_melanoma | Substitution - Nonsense |
c.690delT; p.D230fs*15; 16:69370507-69370507 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.1066C>T; p.R356C; 16:69366955-69366955 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.451G>A; p.E151K; 16:69384609-69384609 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1404A>G; p.G468G; 16:69356997-69356997 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.423G>A; p.T141T; 16:69384637-69384637 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.795G>A; p.V265V; 16:69368402-69368402 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.795G>A; p.V265V; 16:69368402-69368402 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.1438G>A; p.V480I; 16:69356963-69356963 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.327G>A; p.R109R; 16:69385413-69385413 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.817G>A; p.A273T; 16:69368380-69368380 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1214+2T>C; p.?; 16:69366805-69366805 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1019C>T; p.A340V; 16:69367002-69367002 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1095G>T; p.E365D; 16:69366926-69366926 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.482C>T; p.A161V; 16:69372354-69372354 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1210C>T; p.P404S; 16:69366811-69366811 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.822G>A; p.R274R; 16:69367199-69367199 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.627C>T; p.I209I; 16:69370570-69370570 |
skin | malignant_melanoma | Substitution - coding silent |
c.943C>A; p.L315I; 16:69367078-69367078 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.975C>T; p.A325A; 16:69367046-69367046 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.879G>C; p.K293N; 16:69367142-69367142 |
breast | carcinoma | Substitution - Missense |
c.1150G>A; p.A384T; 16:69366871-69366871 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1491T>A; p.L497L; 16:69356910-69356910 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1123G>A; p.A375T; 16:69366898-69366898 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1023G>A; p.P341P; 16:69366998-69366998 |
pancreas | carcinoma | Substitution - coding silent |
c.1453G>A; p.V485M; 16:69356948-69356948 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.481-3delT; p.?; 16:69372358-69372358 |
stomach | adenocarcinoma | Unknown |
c.205C>G; p.R69G; 16:69385641-69385641 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.648C>G; p.T216T; 16:69370549-69370549 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.575G>T; p.R192I; 16:69370622-69370622 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.575G>T; p.R192I; 16:69370622-69370622 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1297C>T; p.Q433*; 16:69361407-69361407 |
NS | NS | Substitution - Nonsense |
c.1493G>A; p.G498D; 16:69356908-69356908 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.692A>G; p.D231G; 16:69370505-69370505 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1415C>T; p.A472V; 16:69356986-69356986 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.601G>A; p.E201K; 16:69370596-69370596 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1471T>A; p.W491R; 16:69356930-69356930 |
breast | carcinoma | Substitution - Missense |
c.977T>C; p.L326P; 16:69367044-69367044 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.9A>T; p.G3G; 16:69385837-69385837 |
liver | carcinoma | Substitution - coding silent |
c.9A>T; p.G3G; 16:69385837-69385837 |
liver | carcinoma | Substitution - coding silent |
c.322T>C; p.S108P; 16:69385418-69385418 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.303G>A; p.L101L; 16:69385437-69385437 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1343A>G; p.Q448R; 16:69357519-69357519 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.773A>C; p.K258T; 16:69368424-69368424 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |