| Gene ID | 1317 |
| Symbol | SLC31A1 |
| Synonymous | COPT1|CTR1 |
| Full name | solute carrier family 31 (copper transporter), member 1 |
| Gene description | copper transport 1 homolog|copper transporter 1|high affinity copper uptake protein 1|solute carrier family 31 (copper transporters), member 1|solute carrier family 31 member 1 |
| Cytoband | 9q32 |
| Gene type | protein-coding |
| Synonymous | MIM:603085; HGNC:HGNC:11016; Ensembl:ENSG00000136868; HPRD:04362; Vega:OTTHUMG00000020519 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.304C>T; p.R102C; 9:113258795-113258795 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.268C>T; p.R90*; 9:113258759-113258759 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Nonsense |
c.268C>T; p.R90*; 9:113258759-113258759 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.268C>T; p.R90*; 9:113258759-113258759 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.472G>T; p.G158W; 9:113260372-113260372 |
skin | malignant_melanoma | Substitution - Missense |
c.151T>C; p.F51L; 9:113257134-113257134 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.89C>T; p.S30L; 9:113256237-113256237 |
breast | carcinoma | Substitution - Missense |
c.232T>G; p.L78V; 9:113258723-113258723 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.41C>T; p.S14F; 9:113256189-113256189 |
skin | malignant_melanoma | Substitution - Missense |
c.555C>T; p.I185I; 9:113260455-113260455 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.345C>T; p.I115I; 9:113258836-113258836 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.445C>A; p.L149I; 9:113260345-113260345 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.365C>G; p.T122S; 9:113258856-113258856 |
prostate | carcinoma | Substitution - Missense |
c.360C>G; p.H120Q; 9:113258851-113258851 |
breast | carcinoma | Substitution - Missense |
c.374A>G; p.Q125R; 9:113260274-113260274 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.504C>T; p.A168A; 9:113260404-113260404 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.504C>T; p.A168A; 9:113260404-113260404 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.284G>T; p.R95L; 9:113258775-113258775 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.241A>G; p.M81V; 9:113258732-113258732 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.320C>T; p.P107L; 9:113258811-113258811 |
skin | malignant_melanoma | Substitution - Missense |
c.87C>T; p.A29A; 9:113256235-113256235 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |