| Gene ID | 30968 |
| Symbol | STOML2 |
| Synonymous | HSPC108|SLP-2 |
| Full name | stomatin (EPB72)-like 2 |
| Gene description | EPB72-like protein 2|paraprotein target 7|paratarg-7|stomatin-like 2|stomatin-like protein 2, mitochondrial |
| Cytoband | 9p13.1 |
| Gene type | protein-coding |
| Synonymous | MIM:608292; HGNC:HGNC:14559; Ensembl:ENSG00000165283; HPRD:16310; Vega:OTTHUMG00000019851 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.335C>T; p.P112L; 9:35101911-35101911 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.691G>T; p.A231S; 9:35101168-35101168 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.687C>T; p.S229S; 9:35101172-35101172 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.658G>A; p.G220R; 9:35101201-35101201 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.416G>A; p.G139D; 9:35101738-35101738 |
eye; retina | retinoblastoma | Substitution - Missense |
c.776G>A; p.R259Q; 9:35100960-35100960 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.201C>T; p.I67I; 9:35102177-35102177 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.89C>G; p.S30C; 9:35102780-35102780 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.323G>A; p.R108H; 9:35101923-35101923 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.688G>A; p.E230K; 9:35101171-35101171 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.742C>T; p.L248L; 9:35100994-35100994 |
skin | malignant_melanoma | Substitution - coding silent |
c.910G>A; p.D304N; 9:35100621-35100621 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1055G>A; p.R352Q; 9:35100051-35100051 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.11G>T; p.R4L; 9:35103084-35103084 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.775C>T; p.R259*; 9:35100961-35100961 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.775C>T; p.R259*; 9:35100961-35100961 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.73C>G; p.P25A; 9:35102796-35102796 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.73C>G; p.P25A; 9:35102796-35102796 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.965C>T; p.A322V; 9:35100141-35100141 |
skin | malignant_melanoma | Substitution - Missense |
c.245T>C; p.I82T; 9:35102133-35102133 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.739G>A; p.V247I; 9:35100997-35100997 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.125C>T; p.P42L; 9:35102744-35102744 |
thyroid | carcinoma | Substitution - Missense |
c.853G>A; p.A285T; 9:35100678-35100678 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.334C>T; p.P112S; 9:35101912-35101912 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.521G>A; p.R174H; 9:35101484-35101484 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.45+9G>A; p.?; 9:35103041-35103041 |
breast | carcinoma | Unknown |
c.520C>T; p.R174C; 9:35101485-35101485 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.215G>A; p.R72Q; 9:35102163-35102163 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.352G>A; p.G118S; 9:35101802-35101802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.141G>A; p.W47*; 9:35102728-35102728 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.272C>T; p.A91V; 9:35102106-35102106 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1001G>T; p.G334V; 9:35100105-35100105 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.180G>T; p.E60D; 9:35102689-35102689 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.180G>T; p.E60D; 9:35102689-35102689 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.304G>A; p.D102N; 9:35101942-35101942 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.853delG; p.A285fs*71; 9:35100678-35100678 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.597G>A; p.R199R; 9:35101262-35101262 |
breast | carcinoma | Substitution - coding silent |
c.376G>A; p.V126I; 9:35101778-35101778 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.576G>T; p.M192I; 9:35101429-35101429 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1062G>T; p.K354N; 9:35100044-35100044 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.596G>T; p.R199L; 9:35101263-35101263 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.374C>T; p.A125V; 9:35101780-35101780 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.63T>A; p.S21S; 9:35102806-35102806 |
prostate | carcinoma | Substitution - coding silent |
c.374C>T; p.A125V; 9:35101780-35101780 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.23G>T; p.G8V; 9:35103072-35103072 |
liver | carcinoma | Substitution - Missense |
c.23G>T; p.G8V; 9:35103072-35103072 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.826C>A; p.L276M; 9:35100705-35100705 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.333C>T; p.D111D; 9:35101913-35101913 |
skin | malignant_melanoma | Substitution - coding silent |
c.511C>T; p.R171C; 9:35101494-35101494 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.470T>C; p.I157T; 9:35101535-35101535 |
ovary | carcinoma | Substitution - Missense |
c.322C>G; p.R108G; 9:35101924-35101924 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |