| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 5154 |
Name | PDGFA |
Synonymous | PDGF-A|PDGF1;platelet-derived growth factor alpha polypeptide;PDGFA;platelet-derived growth factor alpha polypeptide |
Definition | PDGF A-chain|PDGF subunit A|PDGF-1|platelet-derived growth factor A chain|platelet-derived growth factor alpha chain|platelet-derived growth factor alpha isoform 2 preproprotein|platelet-derived growth factor subunit A |
Position | 7p22 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for PDGFA | ||
PCGP somatic mutation [Top] | ||
There is no record for PDGFA | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.591_592GG>AA; p.E198K; |
NS | malignant_melanoma |
c.591_592GG>AA; p.E198K; |
NS | malignant_melanoma |
c.607C>T; p.R203W; |
oesophagus | carcinoma; adenocarcinoma |
c.454G>A; p.V152M; |
oesophagus | carcinoma; adenocarcinoma |
c.226G>A; p.E76K; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.566G>T; p.R189L; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.612A>C; p.K204N; |
skin; trunk | malignant_melanoma |
c.526G>T; p.E176*; |
autonomic_ganglia | neuroblastoma |
c.216G>C; p.K72N; |
lung | carcinoma; adenocarcinoma |
c.382C>T; p.R128C; |
lung | carcinoma; adenocarcinoma |
c.580G>T; p.G194*; |
lung | carcinoma; adenocarcinoma |
c.279C>T; p.P93P; |
lung | carcinoma; squamous_cell_carcinoma |
c.186C>T; p.S62S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.532G>A; p.A178T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.173C>A; p.S58Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.187C>G; p.L63V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.347A>G; p.N116S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.362C>T; p.P121L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.499G>A; p.V167I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.560A>T; p.D187V; |
prostate | carcinoma |
c.612A>G; p.K204K; |
prostate | carcinoma |
c.607C>T; p.R203W; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.606delA; p.K202fs*7; |
stomach | adenocarcinoma |