| Gene ID | 6513 |
| Symbol | SLC2A1 |
| Synonymous | DYT17|DYT18|DYT9|EIG12|GLUT|GLUT-1|GLUT1|GLUT1DS|HTLVR|PED |
| Full name | solute carrier family 2 (facilitated glucose transporter), member 1 |
| Gene description | glucose transporter type 1, erythrocyte/brain|hepG2 glucose transporter|human T-cell leukemia virus (I and II) receptor|receptor for HTLV-1 and HTLV-2|solute carrier family 2, facilitated glucose transporter member 1 |
| Cytoband | 1p34.2 |
| Gene type | protein-coding |
| Synonymous | MIM:138140; MIM:143090; HGNC:HGNC:11005; Ensembl:ENSG00000117394; HPRD:00683; Vega:OTTHUMG00000007657 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.51A>C; p.G17G; 1:42943289-42943289 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.179C>T; p.T60M; 1:42931142-42931142 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.586C>G; p.P196A; 1:42929966-42929966 |
meninges | meningioma | Substitution - Missense |
c.695G>A; p.R232H; 1:42929765-42929765 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.97A>C; p.I33L; 1:42943243-42943243 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.97A>C; p.I33L; 1:42943243-42943243 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.319G>A; p.A107T; 1:42930823-42930823 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1062G>A; p.A354A; 1:42928944-42928944 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1155C>T; p.P385P; 1:42927728-42927728 |
skin | malignant_melanoma | Substitution - coding silent |
c.224G>A; p.G75E; 1:42931097-42931097 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.739G>A; p.E247K; 1:42929721-42929721 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.218C>T; p.S73F; 1:42931103-42931103 |
skin | malignant_melanoma | Substitution - Missense |
c.758G>A; p.R253Q; 1:42929702-42929702 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.123G>T; p.E41D; 1:42931198-42931198 |
liver | carcinoma | Substitution - Missense |
c.1334T>C; p.F445S; 1:42927186-42927186 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.258C>T; p.F86F; 1:42931063-42931063 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.258C>T; p.F86F; 1:42931063-42931063 |
skin | malignant_melanoma | Substitution - coding silent |
c.1296C>T; p.Y432Y; 1:42927224-42927224 |
pancreas | carcinoma | Substitution - coding silent |
c.973C>T; p.L325L; 1:42929033-42929033 |
pancreas | NS | Substitution - coding silent |
c.109_110insC; p.Q37fs*52; 1:42943230-42943231 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.1333T>C; p.F445L; 1:42927187-42927187 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1333T>C; p.F445L; 1:42927187-42927187 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1333T>C; p.F445L; 1:42927187-42927187 |
large_intestine; rectum | NS | Substitution - Missense |
c.265C>T; p.R89C; 1:42931056-42931056 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1215C>T; p.A405A; 1:42927668-42927668 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1399T>C; p.F467L; 1:42927121-42927121 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.694C>T; p.R232C; 1:42929766-42929766 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.694C>T; p.R232C; 1:42929766-42929766 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.462G>A; p.G154G; 1:42930680-42930680 |
skin | malignant_melanoma | Substitution - coding silent |
c.988C>T; p.R330*; 1:42929018-42929018 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.612G>T; p.L204L; 1:42929940-42929940 |
thyroid | other; neoplasm | Substitution - coding silent |
c.790C>T; p.R264C; 1:42929670-42929670 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.795C>T; p.S265S; 1:42929665-42929665 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.312C>T; p.F104F; 1:42930830-42930830 |
oesophagus | carcinoma | Substitution - coding silent |
c.1412delG; p.G471fs*>22; 1:42927108-42927108 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1038T>G; p.G346G; 1:42928968-42928968 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1011C>T; p.H337H; 1:42928995-42928995 |
breast | carcinoma | Substitution - coding silent |
c.510C>T; p.I170I; 1:42930632-42930632 |
skin | malignant_melanoma | Substitution - coding silent |
c.624C>T; p.P208P; 1:42929928-42929928 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.624C>T; p.P208P; 1:42929928-42929928 |
stomach | adenocarcinoma | Substitution - coding silent |
c.1182C>T; p.L394L; 1:42927701-42927701 |
breast | carcinoma | Substitution - coding silent |
c.180G>A; p.T60T; 1:42931141-42931141 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.443C>T; p.S148L; 1:42930699-42930699 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.45C>T; p.A15A; 1:42943295-42943295 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.45C>T; p.A15A; 1:42943295-42943295 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1221A>C; p.A407A; 1:42927662-42927662 |
skin | malignant_melanoma | Substitution - coding silent |
c.1420C>A; p.Q474K; 1:42927100-42927100 |
skin | malignant_melanoma | Substitution - Missense |
c.1099C>T; p.L367L; 1:42927784-42927784 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.973-1G>T; p.?; 1:42929034-42929034 |
pancreas | NS | Unknown |
c.213C>G; p.I71M; 1:42931108-42931108 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.736G>A; p.E246K; 1:42929724-42929724 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.603C>T; p.C201C; 1:42929949-42929949 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.339G>A; p.S113S; 1:42930803-42930803 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1196C>A; p.P399Q; 1:42927687-42927687 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.458G>A; p.R153H; 1:42930684-42930684 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1190A>G; p.Q397R; 1:42927693-42927693 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.517-1G>A; p.?; 1:42930036-42930036 |
skin | malignant_melanoma | Unknown |
c.131A>G; p.Y44C; 1:42931190-42931190 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.511G>A; p.A171T; 1:42930631-42930631 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.511G>A; p.A171T; 1:42930631-42930631 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.371T>C; p.L124P; 1:42930771-42930771 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.558G>A; p.W186*; 1:42929994-42929994 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.819C>G; p.L273L; 1:42929641-42929641 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.107C>G; p.P36R; 1:42943233-42943233 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.178A>G; p.T60A; 1:42931143-42931143 |
skin | malignant_melanoma | Substitution - Missense |
c.189G>A; p.T63T; 1:42931132-42931132 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.522C>T; p.F174F; 1:42930030-42930030 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.522C>T; p.F174F; 1:42930030-42930030 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.522C>T; p.F174F; 1:42930030-42930030 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.936C>T; p.G312G; 1:42929246-42929246 |
skin | malignant_melanoma | Substitution - coding silent |
c.134A>G; p.N45S; 1:42931187-42931187 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.399C>T; p.C133C; 1:42930743-42930743 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.399C>T; p.C133C; 1:42930743-42930743 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1185C>T; p.F395F; 1:42927698-42927698 |
breast | carcinoma | Substitution - coding silent |
c.1108G>A; p.V370M; 1:42927775-42927775 |
pancreas | carcinoma | Substitution - Missense |
c.639C>T; p.F213F; 1:42929913-42929913 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1014C>T; p.L338L; 1:42928992-42928992 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.639C>T; p.F213F; 1:42929913-42929913 |
skin | malignant_melanoma | Substitution - coding silent |
c.1460G>C; p.G487A; 1:42927060-42927060 |
oesophagus | carcinoma | Substitution - Missense |
c.1405C>T; p.Q469*; 1:42927115-42927115 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.967G>A; p.V323M; 1:42929215-42929215 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.849G>A; p.Q283Q; 1:42929611-42929611 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.295A>G; p.M99V; 1:42930847-42930847 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.313G>A; p.V105M; 1:42930829-42930829 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.313G>A; p.V105M; 1:42930829-42930829 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.152G>A; p.R51H; 1:42931169-42931169 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.89C>A; p.T30N; 1:42943251-42943251 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1095C>A; p.S365S; 1:42927788-42927788 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.894C>T; p.F298F; 1:42929288-42929288 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.653G>A; p.R218H; 1:42929899-42929899 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.243C>T; p.F81F; 1:42931078-42931078 |
breast | carcinoma | Substitution - coding silent |
c.174C>T; p.P58P; 1:42931147-42931147 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |