Entrez Gene

Basic Information
Gene ID	5226
Name	PGD
Synonymous	phosphogluconate dehydrogenase;PGD;phosphogluconate dehydrogenase
Definition	6-phosphogluconate dehydrogenase, decarboxylating
Position	1p36.22
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1009C>A; p.Q337K; 1:10417409-10417409	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.419C>T; p.S140L; 1:10404249-10404249	skin; extremity	malignant_melanoma	Substitution - Missense
c.1408A>G; p.T470A; 1:10419705-10419705	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1321A>G; p.S441G; 1:10419528-10419528	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.762C>G; p.I254M; 1:10413169-10413169	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.367T>G; p.F123V; 1:10404197-10404197	skin	malignant_melanoma	Substitution - Missense
c.171C>T; p.S57S; 1:10400479-10400479	skin	malignant_melanoma	Substitution - coding silent
c.1009C>T; p.Q337*; 1:10417409-10417409	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Nonsense
c.206G>A; p.R69Q; 1:10400514-10400514	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1182C>A; p.F394L; 1:10418898-10418898	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1442A>G; p.Y481C; 1:10419739-10419739	liver	carcinoma	Substitution - Missense
c.170_171CC>TT; p.S57F; 1:10400478-10400479	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.378C>T; p.S126S; 1:10404208-10404208	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.500G>C; p.G167A; 1:10408121-10408121	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.826G>A; p.V276I; 1:10413233-10413233	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1009C>G; p.Q337E; 1:10417409-10417409	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.826G>A; p.V276I; 1:10413233-10413233	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.890G>T; p.R297I; 1:10417032-10417032	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.715A>G; p.I239V; 1:10413122-10413122	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.122A>C; p.D41A; 1:10400430-10400430	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.809C>T; p.S270F; 1:10413216-10413216	skin	malignant_melanoma	Substitution - Missense
c.774G>A; p.A258A; 1:10413181-10413181	thyroid	other; neoplasm	Substitution - coding silent
c.1225G>T; p.A409S; 1:10419432-10419432	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.212T>A; p.I71N; 1:10400520-10400520	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.188C>G; p.S63C; 1:10400496-10400496	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.62A>G; p.N21S; 1:10399682-10399682	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1413C>T; p.G471G; 1:10419710-10419710	skin	malignant_melanoma	Substitution - coding silent
c.1071C>G; p.G357G; 1:10417471-10417471	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.643G>A; p.E215K; 1:10411541-10411541	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.868T>G; p.L290V; 1:10417010-10417010	breast	carcinoma	Substitution - Missense
c.862C>T; p.R288W; 1:10417004-10417004	breast	carcinoma	Substitution - Missense
c.208C>T; p.R70W; 1:10400516-10400516	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1118T>A; p.L373Q; 1:10418834-10418834	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.571G>C; p.E191Q; 1:10411469-10411469	urinary_tract; bladder	carcinoma	Substitution - Missense
c.732C>T; p.D244D; 1:10413139-10413139	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.732C>T; p.D244D; 1:10413139-10413139	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.732C>T; p.D244D; 1:10413139-10413139	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.732C>T; p.D244D; 1:10413139-10413139	thyroid	other; neoplasm	Substitution - coding silent
c.546C>T; p.F182F; 1:10411444-10411444	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.546C>T; p.F182F; 1:10411444-10411444	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1333-9G>A; p.?; 1:10419621-10419621	stomach	carcinoma; adenocarcinoma	Unknown
c.1333-9G>A; p.?; 1:10419621-10419621	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.126C>A; p.F42L; 1:10400434-10400434	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.126C>A; p.F42L; 1:10400434-10400434	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.178G>A; p.E60K; 1:10400486-10400486	skin	malignant_melanoma	Substitution - Missense
c.442G>C; p.E148Q; 1:10404272-10404272	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.459C>G; p.I153M; 1:10408080-10408080	breast	carcinoma	Substitution - Missense
c.1109G>C; p.S370T; 1:10417509-10417509	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.374_375GG>AA; p.G125>?; 1:10404204-10404205	NS	malignant_melanoma	Complex
c.91G>A; p.A31T; 1:10400399-10400399	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.416C>T; p.P139L; 1:10404246-10404246	skin	malignant_melanoma	Substitution - Missense
c.1222C>T; p.R408W; 1:10419429-10419429	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1350C>T; p.F450F; 1:10419647-10419647	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1350C>T; p.F450F; 1:10419647-10419647	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1293C>G; p.D431E; 1:10419500-10419500	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.252C>A; p.F84L; 1:10400560-10400560	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.720C>G; p.L240L; 1:10413127-10413127	breast	carcinoma	Substitution - coding silent
c.1246G>A; p.A416T; 1:10419453-10419453	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.970C>A; p.R324R; 1:10417112-10417112	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.538G>A; p.G180S; 1:10411436-10411436	skin	malignant_melanoma	Substitution - Missense
c.195G>A; p.L65L; 1:10400503-10400503	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.863G>A; p.R288Q; 1:10417005-10417005	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.120T>C; p.D40D; 1:10400428-10400428	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.120T>C; p.D40D; 1:10400428-10400428	prostate	adenoma	Substitution - coding silent
c.120T>C; p.D40D; 1:10400428-10400428	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.120T>C; p.D40D; 1:10400428-10400428	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1256_1257CC>TT; p.P419L; 1:10419463-10419464	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.155T>A; p.V52E; 1:10400463-10400463	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.970C>T; p.R324W; 1:10417112-10417112	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.493G>A; p.G165R; 1:10408114-10408114	skin	malignant_melanoma	Substitution - Missense
c.999C>T; p.I333I; 1:10417399-10417399	skin	malignant_melanoma	Substitution - coding silent
c.1011A>G; p.Q337Q; 1:10417411-10417411	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1011A>G; p.Q337Q; 1:10417411-10417411	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1214C>T; p.S405F; 1:10419421-10419421	skin	malignant_melanoma	Substitution - Missense
c.672T>A; p.N224K; 1:10413079-10413079	kidney	other; neoplasm	Substitution - Missense
c.1145G>A; p.R382Q; 1:10418861-10418861	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1117C>A; p.L373I; 1:10418833-10418833	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1066_1067GG>AA; p.G356N; 1:10417466-10417467	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.996C>T; p.I332I; 1:10417396-10417396	skin	malignant_melanoma	Substitution - coding silent
c.996C>T; p.I332I; 1:10417396-10417396	skin	malignant_melanoma	Substitution - coding silent
c.1283C>T; p.S428F; 1:10419490-10419490	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.810C>T; p.S270S; 1:10413217-10413217	skin	malignant_melanoma	Substitution - coding silent
c.1109+1_1109+4delGTAA; p.?; 1:10417510-10417513	large_intestine	carcinoma; adenocarcinoma	Unknown
c.1256C>T; p.P419L; 1:10419463-10419463	skin	malignant_melanoma	Substitution - Missense
c.204C>T; p.P68P; 1:10400512-10400512	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1081A>C; p.M361L; 1:10417481-10417481	skin	malignant_melanoma	Substitution - Missense
c.1284C>T; p.S428S; 1:10419491-10419491	skin	malignant_melanoma	Substitution - coding silent
c.1134T>C; p.D378D; 1:10418850-10418850	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1326C>T; p.L442L; 1:10419533-10419533	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.773C>A; p.A258E; 1:10413180-10413180	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1293C>T; p.D431D; 1:10419500-10419500	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.944A>G; p.D315G; 1:10417086-10417086	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.759G>T; p.K253N; 1:10413166-10413166	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.472C>T; p.Q158*; 1:10408093-10408093	skin	malignant_melanoma	Substitution - Nonsense
c.1287C>T; p.F429F; 1:10419494-10419494	skin	malignant_melanoma	Substitution - coding silent

COSMIC somatic mutation [Top]