| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 6532 |
Name | SLC6A4 |
Synonymous | 5-HTT|5-HTTLPR|5HTT|HTT|OCD1|SERT|SERT1|hSERT;solute carrier family 6 (neurotransmitter transporter, serotonin), member 4;SLC6A4;solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 |
Definition | 5-hydroxytryptamine transporter|5HT transporter|Na+/Cl- dependent serotonin transporter|sodium-dependent serotonin transporter|solute carrier family 6 member 4 |
Position | 17q11.2 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for SLC6A4 | ||
PCGP somatic mutation [Top] | ||
There is no record for SLC6A4 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.359C>T; p.P120L; |
NS | NS |
c.195G>A; p.A65A; |
skin; nipple | malignant_melanoma |
c.700C>T; p.R234C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1513G>A; p.A505T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.73G>T; p.G25*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.396C>A; p.L132L; |
skin; abdomen | malignant_melanoma |
c.586C>T; p.P196S; |
skin; back | malignant_melanoma |
c.1781C>T; p.A594V; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1404C>T; p.A468A; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.698+1G>A; p.?; |
oesophagus | carcinoma; adenocarcinoma |
c.140A>G; p.Y47C; |
oesophagus | carcinoma; adenocarcinoma |
c.862_863insC; p.Y289fs*61; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.493A>G; p.I165V; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.747G>A; p.G249G; |
liver | carcinoma |
c.1256C>T; p.A419V; |
lung | carcinoma; adenocarcinoma |
c.73G>T; p.G25*; |
lung | carcinoma; adenocarcinoma |
c.124C>A; p.Q42K; |
breast | carcinoma; ductal_carcinoma |
c.120C>T; p.S40S; |
liver | carcinoma |
c.700C>T; p.R234C; |
ovary | carcinoma; serous_carcinoma |
c.1468A>G; p.K490E; |
ovary | carcinoma; serous_carcinoma |
c.436G>T; p.G146*; |
ovary | carcinoma; serous_carcinoma |
c.60T>C; p.D20D; 17:25573043-25573043 |
ovary | carcinoma; serous_carcinoma |
c.903C>A; p.T301T; |
lung | carcinoma; squamous_cell_carcinoma |
c.1125G>A; p.S375S; |
lung | carcinoma; adenocarcinoma |
c.804C>T; p.F268F; |
lung; left_upper_lobe | carcinoma; adenocarcinoma |
c.853G>A; p.A285T; |
lung | carcinoma; squamous_cell_carcinoma |
c.130T>C; p.S44P; |
lung | carcinoma; squamous_cell_carcinoma |
c.730G>T; p.G244W; |
lung | carcinoma; squamous_cell_carcinoma |
c.1201G>A; p.A401T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1725C>T; p.I575I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.352C>T; p.L118F; |
breast | carcinoma |
c.1680G>A; p.P560P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1316C>T; p.T439M; |
breast | carcinoma |
c.1343C>T; p.T448M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1461C>T; p.Y487Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1497C>T; p.P499P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.431G>A; p.R144Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.12G>A; p.T4T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1422C>A; p.F474L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.683C>T; p.A228V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.369C>T; p.I123I; |
breast | carcinoma |
c.1150G>A; p.G384S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.436G>T; p.G146*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.359C>T; p.P120L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1518G>T; p.L506L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.23C>A; p.S8Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1135A>G; p.I379V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1670T>C; p.L557P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1200C>T; p.D400D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.330C>T; p.Y110Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1384C>T; p.R462W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.938T>C; p.L313S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1369G>A; p.V457I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1680G>A; p.P560P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.277A>C; p.I93L; |
prostate | carcinoma; adenocarcinoma |
c.1758C>T; p.F586F; |
urinary_tract; bladder | carcinoma |
c.1867G>A; p.G623R; |
skin | malignant_melanoma |
c.853G>A; p.A285T; |
skin; mucosal | malignant_melanoma |
c.3G>A; p.M1I; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.750C>T; p.G250G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |