| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 5002 |
Name | SLC22A18 |
Synonymous | BWR1A|BWSCR1A|HET|IMPT1|ITM|ORCTL2|SLC22A1L|TSSC5|p45-BWR1A;solute carrier family 22, member 18;SLC22A18;solute carrier family 22, member 18 |
Definition | Beckwith-Wiedemann syndrome chromosome region 1, candidate A|ORCTL-2|beckwith-Wiedemann syndrome chromosomal region 1 candidate gene A protein|efflux transporter-like protein|imprinted multi-membrane spanning polyspecific transporter-related protein 1|imp |
Position | 11p15.5 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for SLC22A18 | ||
PCGP somatic mutation [Top] | ||
There is no record for SLC22A18 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.110T>G; p.L37R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1228G>A; p.V410I; 11:2902956-2902956 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.512G>A; p.G171D; 11:2887492-2887492 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1150G>C; p.G384R; |
oesophagus | carcinoma; adenocarcinoma |
c.1165C>T; p.R389C; |
liver | carcinoma |
c.743T>A; p.V248E; |
autonomic_ganglia | neuroblastoma |
c.1013T>A; p.L338Q; |
autonomic_ganglia | neuroblastoma |
c.204C>T; p.F68F; |
lung | carcinoma; adenocarcinoma |
c.1233C>G; p.L411L; |
lung | carcinoma; squamous_cell_carcinoma |
c.1255A>T; p.R419W; 11:2902983-2902983 |
ovary | carcinoma; serous_carcinoma |
c.937C>G; p.L313V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.184G>A; p.G62S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1270C>T; p.R424W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.948C>T; p.I316I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1195G>A; p.V399M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.849C>T; p.F283F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1255A>G; p.R419G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1229T>C; p.V410A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.763G>T; p.G255W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.845T>A; p.F282Y; |
prostate | carcinoma |