| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 84329 |
Name | HVCN1 |
Synonymous | hydrogen voltage gated channel 1;HVCN1;hydrogen voltage gated channel 1 |
Definition | hydrogen voltage-gated channel 1|voltage sensor domain-only protein|voltage-gated hydrogen channel 1 |
Position | 12q24.11 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.418C>T; p.H140Y; 12:110651442-110651442 |
skin | malignant_melanoma | Substitution - Missense |
c.524C>T; p.A175V; 12:110651336-110651336 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.456G>A; p.M152I; 12:110651404-110651404 |
skin | malignant_melanoma | Substitution - Missense |
c.220G>A; p.V74I; 12:110661250-110661250 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.123C>T; p.N41N; 12:110661347-110661347 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.623G>A; p.R208Q; 12:110651237-110651237 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.570C>T; p.F190F; 12:110651290-110651290 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.570C>T; p.F190F; 12:110651290-110651290 |
skin | malignant_melanoma | Substitution - coding silent |
c.622C>T; p.R208W; 12:110651238-110651238 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.790C>T; p.R264*; 12:110649442-110649442 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.709C>A; p.Q237K; 12:110650215-110650215 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.633G>C; p.R211R; 12:110651227-110651227 |
bone; femur | chondrosarcoma | Substitution - coding silent |
c.29C>T; p.T10I; 12:110661441-110661441 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.676C>T; p.R226W; 12:110650248-110650248 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.676C>T; p.R226W; 12:110650248-110650248 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.676C>T; p.R226W; 12:110650248-110650248 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.209C>T; p.A70V; 12:110661261-110661261 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.349C>T; p.L117F; 12:110655296-110655296 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.309C>T; p.V103V; 12:110655336-110655336 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.216T>A; p.P72P; 12:110661254-110661254 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.72C>A; p.F24L; 12:110661398-110661398 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.206C>T; p.A69V; 12:110661264-110661264 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.166C>G; p.Q56E; 12:110661304-110661304 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.196G>A; p.E66K; 12:110661274-110661274 |
skin | malignant_melanoma | Substitution - Missense |
c.166C>G; p.Q56E; 12:110661304-110661304 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.484C>T; p.R162C; 12:110651376-110651376 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.153G>A; p.E51E; 12:110661317-110661317 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.613C>A; p.R205R; 12:110651247-110651247 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.636C>A; p.I212I; 12:110651224-110651224 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.133T>C; p.W45R; 12:110661337-110661337 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.625G>T; p.V209L; 12:110651235-110651235 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.159G>A; p.E53E; 12:110661311-110661311 |
skin | malignant_melanoma | Substitution - coding silent |
c.305A>G; p.Q102R; 12:110661165-110661165 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.192C>T; p.G64G; 12:110661278-110661278 |
prostate | carcinoma | Substitution - coding silent |
c.192C>T; p.G64G; 12:110661278-110661278 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.119T>G; p.I40S; 12:110661351-110661351 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.714G>A; p.L238L; 12:110650210-110650210 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.528C>T; p.V176V; 12:110651332-110651332 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.95G>A; p.G32E; 12:110661375-110661375 |
skin; upper_back | malignant_melanoma | Substitution - Missense |
c.240C>T; p.P80P; 12:110661230-110661230 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.279G>A; p.R93R; 12:110661191-110661191 |
skin | malignant_melanoma | Substitution - coding silent |
c.177C>G; p.P59P; 12:110661293-110661293 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.125A>G; p.Y42C; 12:110661345-110661345 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.219C>T; p.D73D; 12:110661251-110661251 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.511G>C; p.E171Q; 12:110651349-110651349 |
NS | NS | Substitution - Missense |
c.529G>A; p.V177M; 12:110651331-110651331 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.471A>C; p.K157N; 12:110651389-110651389 |
breast | carcinoma | Substitution - Missense |
c.503A>G; p.H168R; 12:110651357-110651357 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.338C>T; p.A113V; 12:110655307-110655307 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.551T>A; p.L184H; 12:110651309-110651309 |
breast | carcinoma | Substitution - Missense |
c.134G>T; p.W45L; 12:110661336-110661336 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.717C>T; p.A239A; 12:110650207-110650207 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.509T>C; p.F170S; 12:110651351-110651351 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.613C>T; p.R205W; 12:110651247-110651247 |
skin | malignant_melanoma | Substitution - Missense |
c.595G>T; p.G199C; 12:110651265-110651265 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.601C>T; p.L201L; 12:110651259-110651259 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.299G>A; p.R100K; 12:110661171-110661171 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.552C>T; p.L184L; 12:110651308-110651308 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.552C>T; p.L184L; 12:110651308-110651308 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.667C>T; p.R223C; 12:110650257-110650257 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.191G>A; p.G64D; 12:110661279-110661279 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.60G>C; p.R20S; 12:110661410-110661410 |
liver | carcinoma | Substitution - Missense |
c.189A>G; p.S63S; 12:110661281-110661281 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.607C>A; p.L203M; 12:110651253-110651253 |
skin | malignant_melanoma | Substitution - Missense |
c.114G>A; p.W38*; 12:110661356-110661356 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Nonsense |
c.736G>C; p.E246Q; 12:110650188-110650188 |
breast | carcinoma | Substitution - Missense |