| Gene ID | 8140 |
| Symbol | SLC7A5 |
| Synonymous | 4F2LC|CD98|D16S469E|E16|LAT1|MPE16|hLAT1 |
| Full name | solute carrier family 7 (amino acid transporter light chain, L system), member 5 |
| Gene description | 4F2 LC|4F2 light chain|CD98 light chain|L-type amino acid transporter 1|integral membrane protein E16|large neutral amino acids transporter 1|large neutral amino acids transporter small subunit 1|sodium-independent neutral amino acid transporter LAT1|solu |
| Cytoband | 16q24.3 |
| Gene type | protein-coding |
| Synonymous | MIM:600182; HGNC:HGNC:11063; Ensembl:ENSG00000103257; HPRD:02552; Vega:OTTHUMG00000137658 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.125_130delAGGGCG; p.E42_G43delEG; 16:87869293-87869298 |
lung | carcinoma; small_cell_carcinoma | Deletion - In frame |
c.822G>A; p.L274L; 16:87839819-87839819 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1158C>T; p.L386L; 16:87836630-87836630 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1470C>G; p.F490L; 16:87833024-87833024 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1290+8C>T; p.?; 16:87836490-87836490 |
skin; trunk | malignant_melanoma; nodular | Unknown |
c.1083C>T; p.S361S; 16:87837902-87837902 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.735G>T; p.L245L; 16:87841085-87841085 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.160A>G; p.N54D; 16:87869263-87869263 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.301C>T; p.L101F; 16:87869122-87869122 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1410C>T; p.P470P; 16:87834472-87834472 |
pancreas | carcinoma | Substitution - coding silent |
c.1475C>T; p.T492M; 16:87833019-87833019 |
pancreas | carcinoma | Substitution - Missense |
c.1077G>C; p.L359L; 16:87837908-87837908 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.166G>T; p.V56L; 16:87869257-87869257 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.963C>T; p.G321G; 16:87838794-87838794 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1332C>T; p.L444L; 16:87834550-87834550 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1332C>T; p.L444L; 16:87834550-87834550 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.934G>T; p.A312S; 16:87839707-87839707 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.345C>A; p.G115G; 16:87869078-87869078 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.934G>T; p.A312S; 16:87839707-87839707 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.939+7C>T; p.?; 16:87839695-87839695 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.853G>A; p.V285M; 16:87839788-87839788 |
liver | carcinoma | Substitution - Missense |
c.853G>A; p.V285M; 16:87839788-87839788 |
liver | carcinoma | Substitution - Missense |
c.1341C>T; p.I447I; 16:87834541-87834541 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1384T>C; p.F462L; 16:87834498-87834498 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.693C>A; p.F231L; 16:87841127-87841127 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.368T>C; p.V123A; 16:87869055-87869055 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.558C>A; p.N186K; 16:87851830-87851830 |
ovary | other; neoplasm | Substitution - Missense |
c.1053C>T; p.F351F; 16:87837932-87837932 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.243G>T; p.S81S; 16:87869180-87869180 |
pancreas | carcinoma | Substitution - coding silent |
c.584G>A; p.R195Q; 16:87851804-87851804 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.606C>T; p.A202A; 16:87851782-87851782 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.732G>C; p.V244V; 16:87841088-87841088 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.990C>T; p.F330F; 16:87838767-87838767 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1519A>G; p.T507A; 16:87832975-87832975 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.648C>T; p.F216F; 16:87851740-87851740 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1480G>A; p.V494I; 16:87833014-87833014 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1480G>A; p.V494I; 16:87833014-87833014 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1290+9G>A; p.?; 16:87836489-87836489 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.687C>T; p.P229P; 16:87841133-87841133 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.923C>G; p.S308C; 16:87839718-87839718 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1224_1225GG>AA; p.A409T; 16:87836563-87836564 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.578C>T; p.A193V; 16:87851810-87851810 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.946G>A; p.G316R; 16:87838811-87838811 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.809C>T; p.P270L; 16:87840435-87840435 |
skin | malignant_melanoma | Substitution - Missense |
c.1518G>C; p.E506D; 16:87832976-87832976 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.786C>T; p.F262F; 16:87840458-87840458 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.937G>A; p.V313M; 16:87839704-87839704 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1186G>A; p.V396I; 16:87836602-87836602 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1015G>A; p.V339I; 16:87838742-87838742 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1221C>T; p.C407C; 16:87836567-87836567 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.764G>C; p.G255A; 16:87841056-87841056 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.193G>A; p.G65S; 16:87869230-87869230 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.961G>A; p.G321S; 16:87838796-87838796 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.891C>T; p.F297F; 16:87839750-87839750 |
skin | malignant_melanoma | Substitution - coding silent |
c.924C>T; p.S308S; 16:87839717-87839717 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.679C>G; p.L227V; 16:87841141-87841141 |
breast | carcinoma | Substitution - Missense |
c.1161C>T; p.Y387Y; 16:87836627-87836627 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.658G>A; p.G220R; 16:87851730-87851730 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.930C>T; p.A310A; 16:87839711-87839711 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1162G>A; p.A388T; 16:87836626-87836626 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.59A>C; p.E20A; 16:87869364-87869364 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.720G>T; p.V240V; 16:87841100-87841100 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.931G>A; p.V311M; 16:87839710-87839710 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.739T>C; p.L247L; 16:87841081-87841081 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1282C>T; p.P428S; 16:87836506-87836506 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.282C>T; p.V94V; 16:87869141-87869141 |
breast | carcinoma | Substitution - coding silent |
c.1342G>A; p.A448T; 16:87834540-87834540 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117C>T; p.P373S; 16:87837868-87837868 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |