| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 5409 |
Name | PNMT |
Synonymous | PENT|PNMTase;phenylethanolamine N-methyltransferase;PNMT;phenylethanolamine N-methyltransferase |
Definition | noradrenaline N-methyltransferase|phenylethanolamine N-methylase |
Position | 17q |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for PNMT | ||
PCGP somatic mutation [Top] | ||
There is no record for PNMT | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.218G>A; p.R73H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.734G>A; p.R245H; |
large_intestine | carcinoma; adenocarcinoma |
c.218G>A; p.R73H; |
large_intestine; colon | carcinoma |
c.173T>C; p.L58P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.490C>T; p.P164S; |
NS | malignant_melanoma |
c.567A>T; p.P189P; 17:35079886-35079886 |
ovary | carcinoma; serous_carcinoma |
c.834G>T; p.Q278H; |
lung | carcinoma; squamous_cell_carcinoma |
c.98G>A; p.R33H; |
lung | carcinoma; squamous_cell_carcinoma |
c.111C>A; p.R37R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.228C>T; p.I76I; |
lung | carcinoma; squamous_cell_carcinoma |
c.315C>G; p.V105V; |
breast | carcinoma |
c.718A>G; p.R240G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.630_632delCCT; p.L213delL; |
endometrium | carcinoma; endometrioid_carcinoma |
c.659C>T; p.S220L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.621_622insG; p.H210fs*27; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.491C>A; p.P164H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.674_675GG>AA; p.G225E; |
skin; scalp | carcinoma; squamous_cell_carcinoma |