| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4137 |
Name | MAPT |
Synonymous | DDPAC|FTDP-17|MAPTL|MSTD|MTBT1|MTBT2|PPND|TAU;microtubule-associated protein tau;MAPT;microtubule-associated protein tau |
Definition | G protein beta1/gamma2 subunit-interacting factor 1|PHF-tau|neurofibrillary tangle protein|paired helical filament-tau |
Position | 17q21.1 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for MAPT | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
MAPT_E12_UTR_3; chr17; 44101699 |
SUB; UTR_3; C; C/G; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.905C>G; p.T302R; |
pancreas; ampulla_of_Vater | carcinoma; ductal_carcinoma |
c.614G>A; p.G205E; |
NS | malignant_melanoma |
c.614G>A; p.G205E; |
NS | malignant_melanoma |
c.1102G>A; p.V368I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.527A>G; p.E176G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.985G>A; p.G329R; |
lung | carcinoma; small_cell_carcinoma |
c.2129T>C; p.V710A; |
lung | carcinoma; small_cell_carcinoma |
c.1326C>G; p.V442V; |
pancreas | carcinoma |
c.1453G>A; p.A485T; |
lung | carcinoma; small_cell_carcinoma |
c.1104C>G; p.V368V; |
liver | carcinoma |
c.1090C>T; p.R364W; |
liver | carcinoma |
c.147G>A; p.Q49Q; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.184G>A; p.E62K; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.1090C>T; p.R364W; |
liver | carcinoma |
c.1326C>G; p.V442V; |
pancreas | carcinoma; ductal_carcinoma |
c.718G>T; p.A240S; |
lung | carcinoma; adenocarcinoma |
c.1413G>A; p.P471P; |
lung | carcinoma; adenocarcinoma |
c.823G>A; p.V275I; |
lung | carcinoma; adenocarcinoma |
c.1553G>T; p.G518V; |
lung | carcinoma; adenocarcinoma |
c.954G>T; p.S318S; |
lung | carcinoma; adenocarcinoma |
c.2086C>T; p.R696C; |
lung | carcinoma; adenocarcinoma |
c.1658C>T; p.P553L; |
ovary | carcinoma; serous_carcinoma |
c.285G>A; p.T95T; |
prostate | carcinoma |
c.1949G>T; p.G650V; |
pancreas | NS |
c.1323C>T; p.Y441Y; |
prostate | adenoma |
c.69G>C; p.R23S; |
prostate | adenoma |
c.100G>T; p.D34Y; |
prostate | adenoma |
c.834G>C; p.E278D; |
prostate | adenoma |
c.2047G>A; p.G683R; |
lung | carcinoma; squamous_cell_carcinoma |
c.2112C>T; p.D704D; |
ovary | carcinoma; serous_carcinoma |
c.196G>T; p.A66S; |
lung | carcinoma; adenocarcinoma |
c.950A>C; p.H317P; |
lung | carcinoma; adenocarcinoma |
c.175C>A; p.P59T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1288G>T; p.A430S; |
lung | carcinoma; adenocarcinoma |
c.2194G>A; p.G732S; |
lung | carcinoma; squamous_cell_carcinoma |
c.1665C>A; p.S555S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.705C>G; p.S235S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.667G>T; p.D223Y; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2087G>A; p.R696H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.61G>T; p.G21W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.603G>A; p.P201P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.940G>C; p.E314Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2047G>A; p.G683R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.24C>T; p.F8F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1531C>T; p.R511C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.989C>T; p.A330V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.230C>T; p.A77V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.24C>T; p.F8F; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.189C>A; p.T63T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1129C>T; p.R377C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1302G>A; p.E434E; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1562G>T; p.G521V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2203G>A; p.D735N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.530A>G; p.D177G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1783A>C; p.I595L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1939C>T; p.H647Y; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2167C>T; p.R723W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1693G>A; p.V565M; |
breast | carcinoma |
c.1632A>G; p.A544A; |
breast | carcinoma |
c.541G>A; p.G181S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1355C>A; p.S452Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1793A>C; p.K598T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1118A>G; p.Q373R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1096A>G; p.K366E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1698C>T; p.P566P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1788T>C; p.N596N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.672C>T; p.V224V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2087G>A; p.R696H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1615G>C; p.E539Q; |
breast | carcinoma |
c.602C>T; p.P201L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1355C>G; p.S452C; |
breast | carcinoma |
c.1860C>T; p.G620G; |
breast | carcinoma |
c.1321T>C; p.Y441H; |
prostate | carcinoma; adenocarcinoma |
c.1483G>A; p.A495T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1043A>T; p.E348V; |
urinary_tract; bladder | carcinoma |
c.1898G>A; p.S633N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1306_1307CC>AT; p.P436I; |
urinary_tract; bladder | carcinoma |
c.1366G>A; p.E456K; |
urinary_tract; bladder | carcinoma |
c.1318A>G; p.K440E; |
urinary_tract; bladder | carcinoma |
c.749C>G; p.A250G; |
prostate | carcinoma |
c.1829C>T; p.S610L; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.1559delC; p.P520fs*51; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1556delC; p.P520fs*51; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1269G>A; p.L423L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |