| Gene ID | 2668 |
| Symbol | GDNF |
| Synonymous | ATF1|ATF2|HFB1-GDNF|HSCR3 |
| Full name | glial cell derived neurotrophic factor |
| Gene description | ATF|astrocyte-derived trophic factor|glial cell line-derived neurotrophic factor |
| Cytoband | 5p13.1-p12 |
| Gene type | protein-coding |
| Synonymous | MIM:600837; HGNC:HGNC:4232; Ensembl:ENSG00000168621; HPRD:02906; Vega:OTTHUMG00000090809 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.308C>G; p.S103C; 5:37815979-37815979 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.98C>T; p.A33V; 5:37834699-37834699 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.328G>T; p.G110C; 5:37815959-37815959 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.278G>T; p.R93L; 5:37816009-37816009 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.278G>T; p.R93L; 5:37816009-37816009 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.529G>A; p.A177T; 5:37815758-37815758 |
pancreas | carcinoma | Substitution - Missense |
c.500G>C; p.R167T; 5:37815787-37815787 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.500G>C; p.R167T; 5:37815787-37815787 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.447C>T; p.C149C; 5:37815840-37815840 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.447C>T; p.C149C; 5:37815840-37815840 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.175G>T; p.D59Y; 5:37816112-37816112 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.96C>T; p.P32P; 5:37834701-37834701 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.183C>T; p.F61F; 5:37816104-37816104 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.183C>T; p.F61F; 5:37816104-37816104 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.465G>A; p.T155T; 5:37815822-37815822 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.358T>G; p.L120V; 5:37815929-37815929 |
skin | malignant_melanoma | Substitution - Missense |
c.572delT; p.L191fs*1; 5:37815715-37815715 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.51G>A; p.A17A; 5:37834746-37834746 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.284C>G; p.A95G; 5:37816003-37816003 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.464C>T; p.T155M; 5:37815823-37815823 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.379G>A; p.V127I; 5:37815908-37815908 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.379G>A; p.V127I; 5:37815908-37815908 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.487T>G; p.L163V; 5:37815800-37815800 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.487T>G; p.L163V; 5:37815800-37815800 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.487T>G; p.L163V; 5:37815800-37815800 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.225G>A; p.L75L; 5:37816062-37816062 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.97G>A; p.A33T; 5:37834700-37834700 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.605A>C; p.K202T; 5:37815682-37815682 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.335G>A; p.R112K; 5:37815952-37815952 |
skin | malignant_melanoma | Substitution - Missense |
c.364G>C; p.A122P; 5:37815923-37815923 |
NS | NS | Substitution - Missense |
c.468C>T; p.Y156Y; 5:37815819-37815819 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.259C>T; p.P87S; 5:37816028-37816028 |
skin; head_neck | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.298C>A; p.P100T; 5:37815989-37815989 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.426T>A; p.F142L; 5:37815861-37815861 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.357C>A; p.V119V; 5:37815930-37815930 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.253G>A; p.V85M; 5:37816034-37816034 |
skin | malignant_melanoma | Substitution - Missense |
c.347_359del13; p.R116fs*6; 5:37815928-37815940 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.593A>G; p.H198R; 5:37815694-37815694 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.406A>G; p.T136A; 5:37815881-37815881 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.522A>G; p.V174V; 5:37815765-37815765 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.412G>A; p.E138K; 5:37815875-37815875 |
skin | malignant_melanoma | Substitution - Missense |
c.190G>T; p.V64F; 5:37816097-37816097 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.137C>T; p.A46V; 5:37834660-37834660 |
liver | carcinoma | Substitution - Missense |
c.137C>T; p.A46V; 5:37834660-37834660 |
liver | carcinoma | Substitution - Missense |
c.176A>C; p.D59A; 5:37816111-37816111 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.478T>C; p.L160L; 5:37815809-37815809 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.466T>C; p.Y156H; 5:37815821-37815821 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.128C>T; p.A43V; 5:37834669-37834669 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.416A>G; p.E139G; 5:37815871-37815871 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.416A>G; p.E139G; 5:37815871-37815871 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.308C>A; p.S103Y; 5:37815979-37815979 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.250G>T; p.A84S; 5:37816037-37816037 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.616A>G; p.K206E; 5:37815671-37815671 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.396G>A; p.L132L; 5:37815891-37815891 |
skin | malignant_melanoma | Substitution - coding silent |
c.354T>A; p.C118*; 5:37815933-37815933 |
skin; extremity | malignant_melanoma | Substitution - Nonsense |
c.431A>C; p.Y144S; 5:37815856-37815856 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.107G>A; p.R36H; 5:37834690-37834690 |
pancreas | carcinoma | Substitution - Missense |
c.455C>T; p.A152V; 5:37815832-37815832 |
skin | malignant_melanoma | Substitution - Missense |
c.249G>A; p.M83I; 5:37816038-37816038 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.491C>T; p.S164F; 5:37815796-37815796 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.459G>T; p.E153D; 5:37815828-37815828 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.439G>A; p.G147S; 5:37815848-37815848 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.350G>A; p.G117D; 5:37815937-37815937 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Missense |
c.425T>G; p.F142C; 5:37815862-37815862 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.199T>G; p.F67V; 5:37816088-37816088 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.398G>T; p.G133V; 5:37815889-37815889 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.457G>A; p.E153K; 5:37815830-37815830 |
oesophagus | carcinoma | Substitution - Missense |
c.63G>A; p.P21P; 5:37834734-37834734 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.126C>G; p.R42R; 5:37834671-37834671 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |