| Gene ID | 6510 |
| Symbol | SLC1A5 |
| Synonymous | AAAT|ASCT2|ATBO|M7V1|M7VS1|R16|RDRC |
| Full name | solute carrier family 1 (neutral amino acid transporter), member 5 |
| Gene description | ATB(0)|RD114 virus receptor|RD114/simian type D retrovirus receptor|baboon M7 virus receptor|neutral amino acid transporter B|neutral amino acid transporter B(0)|sodium-dependent neutral amino acid transporter type 2|solute carrier family 1 member 5 |
| Cytoband | 19q13.3 |
| Gene type | protein-coding |
| Synonymous | MIM:109190; HGNC:HGNC:10943; Ensembl:ENSG00000105281; HPRD:00173; Vega:OTTHUMG00000183434 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1294C>T; p.P432S; 19:46777069-46777069 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1245C>T; p.I415I; 19:46777219-46777219 |
skin | malignant_melanoma | Substitution - coding silent |
c.1021G>C; p.V341L; 19:46778712-46778712 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.1066A>G; p.T356A; 19:46777398-46777398 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1368C>T; p.I456I; 19:46776995-46776995 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1401T>A; p.C467*; 19:46775735-46775735 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Nonsense |
c.901C>T; p.R301C; 19:46778832-46778832 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.241T>C; p.L81L; 19:46787725-46787725 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1254-1G>A; p.?; 19:46777110-46777110 |
skin | malignant_melanoma | Unknown |
c.1025C>T; p.T342M; 19:46778708-46778708 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.1025C>T; p.T342M; 19:46778708-46778708 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1130T>C; p.F377S; 19:46777334-46777334 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1143C>T; p.I381I; 19:46777321-46777321 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.604C>T; p.R202C; 19:46784522-46784522 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.930G>A; p.L310L; 19:46778803-46778803 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.604C>T; p.R202C; 19:46784522-46784522 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.902G>A; p.R301H; 19:46778831-46778831 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.758A>G; p.E253G; 19:46782449-46782449 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.826T>C; p.Y276H; 19:46778907-46778907 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1463G>A; p.R488H; 19:46775673-46775673 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1463G>A; p.R488H; 19:46775673-46775673 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1478G>T; p.S493I; 19:46775658-46775658 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.1169C>T; p.A390V; 19:46777295-46777295 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.768C>T; p.I256I; 19:46782439-46782439 |
skin | malignant_melanoma | Substitution - coding silent |
c.737G>A; p.R246Q; 19:46782470-46782470 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1254-2A>T; p.?; 19:46777111-46777111 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.1106G>A; p.G369D; 19:46777358-46777358 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1560C>G; p.L520L; 19:46775576-46775576 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.673G>A; p.E225K; 19:46782534-46782534 |
skin | malignant_melanoma | Substitution - Missense |
c.768C>A; p.I256I; 19:46782439-46782439 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.673G>A; p.E225K; 19:46782534-46782534 |
skin | malignant_melanoma | Substitution - Missense |
c.528_529insC; p.S177fs*33; 19:46787437-46787438 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.506C>A; p.A169E; 19:46787460-46787460 |
liver | carcinoma | Substitution - Missense |
c.1185C>T; p.C395C; 19:46777279-46777279 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1185C>T; p.C395C; 19:46777279-46777279 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1286C>T; p.A429V; 19:46777077-46777077 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1266A>T; p.T422T; 19:46777097-46777097 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1067C>T; p.T356M; 19:46777397-46777397 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.817A>G; p.I273V; 19:46782390-46782390 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.477C>T; p.S159S; 19:46787489-46787489 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1397C>T; p.S466F; 19:46775739-46775739 |
skin | malignant_melanoma | Substitution - Missense |
c.782C>T; p.S261F; 19:46782425-46782425 |
skin | malignant_melanoma | Substitution - Missense |
c.782C>T; p.S261F; 19:46782425-46782425 |
skin | malignant_melanoma | Substitution - Missense |
c.1144G>A; p.G382S; 19:46777320-46777320 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1604C>T; p.S535F; 19:46775532-46775532 |
skin | malignant_melanoma | Substitution - Missense |
c.1144G>A; p.G382S; 19:46777320-46777320 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1426G>A; p.A476T; 19:46775710-46775710 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.567-8C>T; p.?; 19:46784567-46784567 |
pancreas | carcinoma | Unknown |
c.625G>A; p.E209K; 19:46784129-46784129 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.996C>A; p.N332K; 19:46778737-46778737 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1293_1294CC>TT; p.P432S; 19:46777069-46777070 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1565A>G; p.K522R; 19:46775571-46775571 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1306G>T; p.V436F; 19:46777057-46777057 |
pancreas | carcinoma | Substitution - Missense |
c.1306G>T; p.V436F; 19:46777057-46777057 |
pancreas | carcinoma | Substitution - Missense |
c.1369C>T; p.L457L; 19:46776994-46776994 |
skin | malignant_melanoma | Substitution - coding silent |
c.828C>T; p.Y276Y; 19:46778905-46778905 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.828C>T; p.Y276Y; 19:46778905-46778905 |
thyroid | other; neoplasm | Substitution - coding silent |
c.379C>T; p.L127L; 19:46787587-46787587 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - coding silent |
c.717C>T; p.I239I; 19:46782490-46782490 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.995A>T; p.N332I; 19:46778738-46778738 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.959T>C; p.V320A; 19:46778774-46778774 |
skin | malignant_melanoma | Substitution - Missense |
c.919C>A; p.L307M; 19:46778814-46778814 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.770G>A; p.R257H; 19:46782437-46782437 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.49C>G; p.P17A; 19:46787917-46787917 |
thyroid | other; neoplasm | Substitution - Missense |
c.989G>A; p.R330H; 19:46778744-46778744 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.989G>A; p.R330H; 19:46778744-46778744 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1578G>A; p.G526G; 19:46775558-46775558 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.358G>A; p.D120N; 19:46787608-46787608 |
liver | carcinoma | Substitution - Missense |
c.358G>A; p.D120N; 19:46787608-46787608 |
liver | carcinoma | Substitution - Missense |
c.1496T>A; p.I499K; 19:46775640-46775640 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.999C>T; p.P333P; 19:46778734-46778734 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1473G>A; p.S491S; 19:46775663-46775663 |
oesophagus | carcinoma | Substitution - coding silent |
c.1002C>T; p.Y334Y; 19:46778731-46778731 |
thyroid | carcinoma | Substitution - coding silent |
c.1233C>T; p.F411F; 19:46777231-46777231 |
skin | malignant_melanoma | Substitution - coding silent |
c.1410C>T; p.L470L; 19:46775726-46775726 |
skin | malignant_melanoma | Substitution - coding silent |
c.1171G>A; p.A391T; 19:46777293-46777293 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |