| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 6337 |
Name | SCNN1A |
Synonymous | BESC2|ENaCa|ENaCalpha|SCNEA|SCNN1;sodium channel, nonvoltage-gated 1 alpha;SCNN1A;sodium channel, nonvoltage-gated 1 alpha |
Definition | alpha ENaC-2|alpha-ENaC|alpha-NaCH|amiloride-sensitive epithelial sodium channel alpha subunit|amiloride-sensitive sodium channel subunit alpha|amiloride-sensitive sodium channel subunit alpha 2|epithelial Na(+) channel subunit alpha|nasal epithelial sodi |
Position | 12p13 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for SCNN1A | ||
PCGP somatic mutation [Top] | ||
There is no record for SCNN1A | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.136G>A; p.E46K; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.319G>A; p.G107R; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1522C>T; p.R508*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.116A>C; p.Q39P; |
pancreas | carcinoma; acinar_carcinoma |
c.878A>G; p.N293S; |
liver | carcinoma; hepatocellular_carcinoma |
c.280A>G; p.T94A; |
oesophagus | carcinoma; adenocarcinoma |
c.592C>T; p.H198Y; |
oesophagus | carcinoma; adenocarcinoma |
c.1853G>T; p.C618F; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.1427G>A; p.R476Q; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.1629+1G>C; p.?; |
lung | carcinoma; adenocarcinoma |
c.1772G>C; p.R591P; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.1606A>G; p.N536D; |
skin; extremity | malignant_melanoma |
c.261G>A; p.W87*; |
skin; extremity | malignant_melanoma |
c.767A>G; p.Y256C; |
liver | carcinoma; hepatocellular_carcinoma |
c.898C>T; p.P300S; |
pancreas | carcinoma; ductal_carcinoma |
c.1206T>C; p.P402P; |
prostate | carcinoma |
c.1129A>G; p.I377V; |
prostate | adenoma |
c.22G>A; p.E8K; |
lung | carcinoma; squamous_cell_carcinoma |
c.354C>T; p.I118I; |
lung | carcinoma; squamous_cell_carcinoma |
c.1641C>G; p.L547L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1521G>A; p.S507S; |
lung | carcinoma; squamous_cell_carcinoma |
c.1314G>T; p.R438R; |
lung | carcinoma; adenocarcinoma |
c.1677C>T; p.F559F; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1438A>T; p.S480C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1521G>A; p.S507S; |
breast | carcinoma |
c.1540G>A; p.V514I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1351A>C; p.S451R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1080C>A; p.A360A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1485G>A; p.S495S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1964delG; p.G655fs*>15; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.941C>A; p.S314Y; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1330T>C; p.Y444H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2004_2005insG; p.P669fs*>2; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1716C>T; p.L572L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.91C>A; p.L31M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2004_2005insG; p.P669fs*>2; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.717G>A; p.Q239Q; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1324G>A; p.V442M; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.101A>G; p.E34G; |
urinary_tract; bladder | carcinoma |
c.2004delG; p.*670fs?; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.738T>A; p.D246E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1468T>C; p.Y490H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1612G>A; p.E538K; |
urinary_tract; bladder | carcinoma |
c.775A>G; p.I259V; |
urinary_tract; bladder | carcinoma |
c.521C>T; p.S174F; |
urinary_tract; bladder | carcinoma |
c.2004delG; p.*670fs?; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.741G>A; p.A247A; |
prostate | carcinoma; adenocarcinoma |
c.1168G>A; p.D390N; |
skin | malignant_melanoma |
c.98_99CC>TT; p.P33L; |
skin | malignant_melanoma |
c.1441G>A; p.V481M; |
skin | malignant_melanoma |
c.88G>A; p.G30R; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.416+2T>C; p.?; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.67G>A; p.G23R; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.703G>C; p.D235H; |
stomach | adenocarcinoma |