| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 245972 |
Name | ATP6V0D2 |
Synonymous | ATP6D2|VMA6;ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2;ATP6V0D2;ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 |
Definition | V-ATPase subunit d 2|V-type proton ATPase subunit d 2|vacuolar proton pump subunit d 2 |
Position | - |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for ATP6V0D2 | ||
PCGP somatic mutation [Top] | ||
There is no record for ATP6V0D2 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.370G>A; p.E124K; |
lung | carcinoma; small_cell_carcinoma |
c.323A>T; p.N108I; |
lung | carcinoma; small_cell_carcinoma |
c.729C>A; p.T243T; |
oesophagus | carcinoma; adenocarcinoma |
c.709C>T; p.R237*; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.712G>T; p.E238*; |
liver | carcinoma |
c.758G>T; p.R253L; |
liver | carcinoma |
c.551A>C; p.K184T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.624G>T; p.M208I; |
lung | carcinoma; adenocarcinoma |
c.568C>A; p.L190I; |
lung | carcinoma; adenocarcinoma |
c.474G>A; p.T158T; |
lung | carcinoma; adenocarcinoma |
c.142C>T; p.H48Y; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.142C>T; p.H48Y; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.142C>T; p.H48Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.433G>C; p.E145Q; |
breast | carcinoma |
c.756G>A; p.L252L; |
prostate | carcinoma |
c.522T>G; p.D174E; |
lung | carcinoma; squamous_cell_carcinoma |
c.210T>G; p.I70M; |
lung | carcinoma; squamous_cell_carcinoma |
c.898A>T; p.M300L; |
lung | carcinoma; adenocarcinoma |
c.181C>G; p.H61D; |
lung | carcinoma; adenocarcinoma |
c.817G>A; p.V273I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.711A>G; p.R237R; |
ovary | carcinoma; serous_carcinoma |
c.15G>A; p.A5A; |
ovary | carcinoma; serous_carcinoma |
c.612A>G; p.T204T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.550A>T; p.K184*; |
lung | carcinoma; adenocarcinoma |
c.247G>T; p.E83*; |
lung | carcinoma; adenocarcinoma |
c.827C>T; p.P276L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1019G>A; p.R340Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.14C>T; p.A5V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.82C>A; p.L28M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.302C>T; p.T101M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.112C>T; p.Q38*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.370G>T; p.E124*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.226delA; p.R77fs*24; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.557A>G; p.Y186C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.584A>C; p.K195T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.778G>T; p.D260Y; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.900G>C; p.M300I; |
breast | carcinoma |
c.540G>A; p.L180L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.468C>T; p.I156I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1000T>C; p.C334R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.191C>A; p.P64H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.430G>A; p.A144T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.142C>T; p.H48Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.656G>A; p.R219H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6C>T; p.L2L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.601G>T; p.G201C; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.469G>A; p.E157K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1019G>A; p.R340Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.803C>T; p.A268V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.804G>A; p.A268A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.844G>C; p.G282R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.849C>T; p.G283G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.817-2A>G; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.376C>A; p.L126M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.319G>T; p.D107Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.62G>A; p.R21Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.496G>T; p.D166Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.523G>T; p.E175*; |
breast | carcinoma |
c.451T>A; p.F151I; |
skin | malignant_melanoma |
c.7G>A; p.E3K; |
skin; neck | malignant_melanoma |
c.727A>G; p.T243A; |
skin; neck | malignant_melanoma |