| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 6324 |
Name | SCN1B |
Synonymous | sodium channel, voltage gated, type I beta subunit;SCN1B;sodium channel, voltage gated, type I beta subunit |
Definition | sodium channel beta-1 subunit|sodium channel subunit beta-1|sodium channel, voltage-gated, type I, beta subunit |
Position | 19q13.1 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.586A>G; p.N196D; 19:35039254-35039254 |
skin | malignant_melanoma | Substitution - Missense |
c.133C>T; p.R45C; 19:35032620-35032620 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.636G>A; p.T212T; 19:35039680-35039680 |
breast | carcinoma | Substitution - coding silent |
c.54C>T; p.C18C; 19:35032541-35032541 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.312G>T; p.L104L; 19:35033603-35033603 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - coding silent |
c.352G>A; p.D118N; 19:35033643-35033643 |
liver | carcinoma | Substitution - Missense |
c.386T>A; p.F129Y; 19:35033677-35033677 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.367G>A; p.V123I; 19:35033658-35033658 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.424A>T; p.I142F; 19:35033715-35033715 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.420G>C; p.K140N; 19:35033711-35033711 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.55G>A; p.G19R; 19:35032542-35032542 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.387C>T; p.F129F; 19:35033678-35033678 |
skin | malignant_melanoma | Substitution - coding silent |
c.387C>T; p.F129F; 19:35033678-35033678 |
skin | malignant_melanoma | Substitution - coding silent |
c.458A>T; p.D153V; 19:35039126-35039126 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.59G>A; p.G20D; 19:35032546-35032546 |
skin | malignant_melanoma | Substitution - Missense |
c.526G>A; p.A176T; 19:35039194-35039194 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.286C>T; p.R96W; 19:35033577-35033577 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.265C>T; p.R89C; 19:35033556-35033556 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.590C>T; p.A197V; 19:35039258-35039258 |
breast | carcinoma | Substitution - Missense |
c.77C>T; p.S26L; 19:35032564-35032564 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.388G>A; p.E130K; 19:35033679-35033679 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.388G>A; p.E130K; 19:35033679-35033679 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.436G>A; p.V146I; 19:35033727-35033727 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.225T>C; p.N75N; 19:35033516-35033516 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.327C>T; p.T109T; 19:35033618-35033618 |
skin | malignant_melanoma | Substitution - coding silent |
c.134G>A; p.R45H; 19:35032621-35032621 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.115C>A; p.L39I; 19:35032602-35032602 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.63C>T; p.C21C; 19:35032550-35032550 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.595G>A; p.E199K; 19:35039639-35039639 |
skin | malignant_melanoma | Substitution - Missense |
c.414C>T; p.V138V; 19:35033705-35033705 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1-2C>T; p.?; 19:35030819-35030819 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.646G>T; p.V216L; 19:35039690-35039690 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.546C>T; p.Y182Y; 19:35039214-35039214 |
breast | carcinoma; lobular_carcinoma | Substitution - coding silent |
c.637G>A; p.G213S; 19:35039681-35039681 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.269T>C; p.V90A; 19:35033560-35033560 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.627G>T; p.E209D; 19:35039671-35039671 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.627G>T; p.E209D; 19:35039671-35039671 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.415G>A; p.V139I; 19:35033706-35033706 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.142G>C; p.E48Q; 19:35032629-35032629 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.368T>C; p.V123A; 19:35033659-35033659 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.593C>T; p.S198L; 19:35039637-35039637 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.166G>A; p.E56K; 19:35032653-35032653 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.252G>A; p.E84E; 19:35033543-35033543 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.218A>G; p.Y73C; 19:35033509-35033509 |
soft_tissue; striated_muscle | rhabdomyosarcoma; alveolar | Substitution - Missense |
c.91G>A; p.V31M; 19:35032578-35032578 |
thyroid | carcinoma | Substitution - Missense |
c.352G>T; p.D118Y; 19:35033643-35033643 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.410G>A; p.S137N; 19:35033701-35033701 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.523G>A; p.V175M; 19:35039191-35039191 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |