| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 3784 |
Name | KCNQ1 |
Synonymous | ATFB1|ATFB3|JLNS1|KCNA8|KCNA9|KVLQT1|Kv1.9|Kv7.1|LQT|LQT1|RWS|SQT2|WRS;potassium voltage-gated channel, KQT-like subfamily, member 1;KCNQ1;potassium voltage-gated channel, KQT-like subfamily, member 1 |
Definition | IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1|KQT-like 1|kidney and cardiac voltage dependend K+ channel|potassium voltage-gated channel subfamily KQT member 1|slow delayed rectifier channel subunit|voltage-gated potassium channe |
Position | 11p15.5 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for KCNQ1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
KCNQ1_E16_UTR_3; chr11; 2870037 |
SUB; UTR_3; C; C/T; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.396C>T; p.I132I; |
NS | malignant_melanoma |
c.959_960CC>TT; p.P320L; |
NS | malignant_melanoma |
c.396C>T; p.I132I; |
NS | malignant_melanoma |
c.959_960CC>TT; p.P320L; |
NS | malignant_melanoma |
c.1062G>T; p.K354N; |
lung | carcinoma; small_cell_carcinoma |
c.1378G>A; p.G460S; |
lung | carcinoma; small_cell_carcinoma |
c.1772G>A; p.R591H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.575G>A; p.R192H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1765G>T; p.G589C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.985G>A; p.A329T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.878G>A; p.R293H; |
stomach | carcinoma; intestinal_adenocarcinoma |
c.1638G>A; p.S546S; |
liver | carcinoma |
c.1310T>A; p.M437K; |
stomach | carcinoma; adenocarcinoma |
c.878G>A; p.R293H; |
stomach | carcinoma; adenocarcinoma |
c.1017C>A; p.F339L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.527G>C; p.W176S; |
lung | carcinoma; adenocarcinoma |
c.1269C>A; p.F423L; |
lung | carcinoma; adenocarcinoma |
c.944A>G; p.Y315C; |
lung | carcinoma; adenocarcinoma |
c.684-4G>A; p.?; |
pancreas | other; cystic_tumour |
c.1332G>A; p.T444T; |
prostate | carcinoma |
c.643G>A; p.V215M; |
NS | NS |
c.1819G>C; p.A607P; |
ovary | carcinoma; serous_carcinoma |
c.944A>T; p.Y315F; 11:2561263-2561263 |
ovary | carcinoma; serous_carcinoma |
c.1428G>T; p.M476I; |
ovary | carcinoma; serous_carcinoma |
c.1202G>T; p.R401L; |
lung | carcinoma; squamous_cell_carcinoma |
c.927A>T; p.T309T; |
lung | carcinoma; squamous_cell_carcinoma |
c.530C>A; p.S177Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.681C>T; p.I227I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1022C>T; p.A341V; |
lung | carcinoma; squamous_cell_carcinoma |
c.527G>C; p.W176S; |
lung | carcinoma; adenocarcinoma |
c.1895G>C; p.R632T; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.1196delC; p.R401fs*18; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.859G>A; p.A287T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.553G>A; p.V185M; |
breast | carcinoma |
c.672G>A; p.T224T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1565A>G; p.Y522C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1057C>T; p.L353L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.631G>A; p.V211M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1597C>T; p.R533W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1046C>T; p.S349L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1257G>T; p.K419N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1071G>T; p.Q357H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.984C>T; p.I328I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1132G>A; p.A378T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1196C>A; p.A399D; |
prostate | carcinoma; adenocarcinoma |
c.727C>T; p.R243C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1258delA; p.K422fs*10; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1830C>T; p.T610T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.710G>T; p.R237M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1377C>A; p.D459E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.945T>C; p.Y315Y; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1440G>A; p.M480I; |
breast | carcinoma |
c.1196delC; p.R401fs*18; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1348G>C; p.E450Q; |
urinary_tract; bladder | carcinoma |
c.508G>A; p.E170K; |
skin | malignant_melanoma |
c.1417G>A; p.E473K; |
skin | malignant_melanoma |
c.901G>A; p.D301N; |
skin | malignant_melanoma |
c.452T>C; p.L151P; |
skin | malignant_melanoma |
c.460G>A; p.G154R; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.1432C>T; p.H478Y; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |