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Gene information | Literature | Expression | lncRNA | Mutation | Homolog

Basic Information

Gene ID

5154

Name

PDGFA

Synonymous

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

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.526G>T; p.E176*; 7:501170-501170

 autonomic_ganglianeuroblastomaSubstitution - Nonsense

c.471C>T; p.Y157Y; 7:501225-501225

 bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.538G>A; p.A180T; 7:501158-501158

 central_nervous_system; braingliomaSubstitution - Missense

c.566G>T; p.R189L; 7:501130-501130

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.499G>A; p.V167I; 7:501197-501197

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.173C>A; p.S58Y; 7:512443-512443

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.186C>T; p.S62S; 7:512430-512430

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.347A>G; p.N116S; 7:510915-510915

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.471C>T; p.Y157Y; 7:501225-501225

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; polycythaemia_veraSubstitution - coding silent

c.627A>C; p.K209N; 7:500453-500453

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.627A>G; p.K209K; 7:500453-500453

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.607C>T; p.R203W; 7:500473-500473

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.187C>G; p.L63V; 7:512429-512429

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.362C>T; p.P121L; 7:510900-510900

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.330C>T; p.V110V; 7:510932-510932

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.532G>A; p.A178T; 7:501164-501164

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.565C>T; p.R189W; 7:501131-501131

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.198C>T; p.H66H; 7:512418-512418

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.30C>G; p.L10L; 7:518972-518972

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.207T>C; p.H69H; 7:512409-512409

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.431G>A; p.R144H; 7:510831-510831

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.404C>T; p.T135M; 7:510858-510858

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.581-5A>T; p.?; 7:500504-500504

 livercarcinomaUnknown

c.279C>T; p.P93P; 7:510983-510983

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.382C>T; p.R128C; 7:510880-510880

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.216G>C; p.K72N; 7:512400-512400

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.580G>T; p.G194*; 7:501116-501116

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.607C>T; p.R203W; 7:500473-500473

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.454G>A; p.V152M; 7:501242-501242

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.166G>C; p.E56Q; 7:512450-512450

 ovaryother; neoplasmSubstitution - Missense

c.471C>T; p.Y157Y; 7:501225-501225

 pituitary; craniopharyngeal_ductcraniopharyngioma; adamantinomatousSubstitution - coding silent

c.560A>T; p.D187V; 7:501136-501136

 prostatecarcinomaSubstitution - Missense

c.612A>G; p.K204K; 7:500468-500468

 prostatecarcinomaSubstitution - coding silent

c.612A>C; p.K204N; 7:500468-500468

 skin; trunkmalignant_melanomaSubstitution - Missense

c.319C>T; p.R107W; 7:510943-510943

 skinmalignant_melanomaSubstitution - Missense

c.591_592GG>AA; p.E198K; 7:500488-500489

 skinmalignant_melanomaSubstitution - Missense

c.591_592GG>AA; p.E198K; 7:500488-500489

 skinmalignant_melanomaSubstitution - Missense

c.247C>T; p.R83W; 7:512369-512369

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.442C>T; p.R148C; 7:510820-510820

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.606delA; p.K202fs*7; 7:500474-500474

 stomachadenocarcinomaDeletion - Frameshift

c.433G>A; p.V145I; 7:510829-510829

 thyroidother; neoplasmSubstitution - Missense

c.443G>A; p.R148H; 7:510819-510819

 thyroidother; neoplasmSubstitution - Missense

c.226G>A; p.E76K; 7:512390-512390

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense