| Gene information | Literature | Expression | lncRNA | Mutation | Homolog |
Basic Information | |
|---|---|
Gene ID | 2315 |
Name | MLANA |
Synonymous | melan-A;MLANA;melan-A |
Definition | antigen LB39-AA|antigen SK29-AA|melanoma antigen recognized by T-cells 1|protein Melan-A |
Position | 9p24.1 |
Gene Type | protein-coding |
COSMIC confirmed somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.202T>C; p.C68R; 9:5906912-5906912 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.3G>A; p.M1I; 9:5892477-5892477 |
bone | osteosarcoma | Substitution - Missense |
c.69G>A; p.T23T; 9:5892543-5892543 |
breast | carcinoma | Substitution - coding silent |
c.96C>T; p.I32I; 9:5897575-5897575 |
breast | carcinoma | Substitution - coding silent |
c.152G>A; p.R51Q; 9:5897631-5897631 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.131G>A; p.G44D; 9:5897610-5897610 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.151C>T; p.R51*; 9:5897630-5897630 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.152G>A; p.R51Q; 9:5897631-5897631 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.120_121AC>GA; p.L40>?; 9:5897599-5897600 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Complex |
c.121C>A; p.L41M; 9:5897600-5897600 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.120A>G; p.L40L; 9:5897599-5897599 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.90C>T; p.I30I; 9:5897569-5897569 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.198T>C; p.T66T; 9:5906908-5906908 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.152G>A; p.R51Q; 9:5897631-5897631 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.152G>A; p.R51Q; 9:5897631-5897631 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.152G>A; p.R51Q; 9:5897631-5897631 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.270G>T; p.E90D; 9:5906980-5906980 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.228A>T; p.Q76H; 9:5906938-5906938 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.77+4A>C; p.?; 9:5892555-5892555 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.244C>T; p.R82W; 9:5906954-5906954 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.118T>G; p.L40V; 9:5897597-5897597 |
skin | malignant_melanoma | Substitution - Missense |
c.206C>A; p.A69D; 9:5906916-5906916 |
soft_tissue; fat | liposarcoma; myxoid-round_cell | Substitution - Missense |
c.313G>C; p.E105Q; 9:5908664-5908664 |
urinary_tract; bladder | carcinoma | Substitution - Missense |