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Pedican
Pediatric cancer database
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

5836

Name

PYGL

Synonymous

GSD6;phosphorylase, glycogen, liver;PYGL;phosphorylase, glycogen, liver

Definition

glycogen phosphorylase, liver form

Position

14q21-q22

Gene Type

protein-coding

Gene Mutation:

PCGP germline mutation
PCGP somatic mutation
COSMIC somatic mutation

PCGP germline mutation   [Top]

There is no record for PYGL

PCGP somatic mutation   [Top]

There is no record for PYGL

COSMIC somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

c.2255C>T; p.S752F;

skin; armmalignant_melanoma

c.694C>T; p.P232S;

lungcarcinoma; small_cell_carcinoma

c.172C>T; p.H58Y;

livercarcinoma; hepatocellular_carcinoma

c.833G>A; p.R278Q;

large_intestine; coloncarcinoma; adenocarcinoma

c.962G>A; p.R321H;

large_intestine; coloncarcinoma; adenocarcinoma

c.1160G>A; p.R387H;

large_intestine; coloncarcinoma; adenocarcinoma

c.986C>T; p.A329V;

large_intestine; coloncarcinoma; adenocarcinoma

c.727C>T; p.R243C;

large_intestine; coloncarcinoma; adenocarcinoma

c.591C>A; p.F197L;

large_intestine; coloncarcinoma; adenocarcinoma

c.342C>G; p.Y114*;

large_intestine; coloncarcinoma; adenocarcinoma

c.2541T>C; p.N847N;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma

c.255C>T; p.Y85Y;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma

c.856-2A>C; p.?;

oesophaguscarcinoma; adenocarcinoma

c.1828-2A>C; p.?;

oesophaguscarcinoma; adenocarcinoma

c.1203G>T; p.L401F;

oesophaguscarcinoma; adenocarcinoma

c.805G>T; p.D269Y;

lungcarcinoma; adenocarcinoma

c.1654A>T; p.T552S;

lungcarcinoma; adenocarcinoma

c.2113G>T; p.G705W;

lungcarcinoma; adenocarcinoma

c.1037C>A; p.A346E;

livercarcinoma

c.1359G>T; p.V453V;

livercarcinoma; hepatocellular_carcinoma

c.1685C>T; p.S562F;

lungcarcinoma; adenocarcinoma

c.442A>T; p.M148L;

lungcarcinoma; adenocarcinoma

c.1617G>C; p.K539N;

lungcarcinoma; adenocarcinoma

c.2427G>A; p.S809S;

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma

c.809G>A; p.R270Q;

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma

c.2254_2255insT; p.S752fs*6;

skin; trunkmalignant_melanoma

c.2254_2255insT; p.S752fs*6;

skin; trunkmalignant_melanoma

c.2088C>A; p.A696A;

autonomic_ganglianeuroblastoma

c.1654A>T; p.T552S;

lungcarcinoma; bronchioloalveolar_adenocarcinoma

c.2537G>T; p.G846V;

NSNS

c.485A>G; p.Y162C;

livercarcinoma

c.581G>T; p.R194L;

lungcarcinoma; small_cell_carcinoma

c.802C>A; p.L268M;

prostateadenoma

c.904G>A; p.A302T;

prostatecarcinoma

c.1650G>T; p.L550L;

lungcarcinoma; squamous_cell_carcinoma

c.510G>T; p.K170N;

lungcarcinoma; squamous_cell_carcinoma

c.524G>T; p.W175L;

lungcarcinoma; squamous_cell_carcinoma

c.965G>T; p.G322V;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.1882G>T; p.A628S;

lungcarcinoma; adenocarcinoma

c.1837G>C; p.G613R;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.153C>T; p.D51D;

ovarycarcinoma; serous_carcinoma

c.514C>T; p.R172*;

lungcarcinoma; squamous_cell_carcinoma

c.346-2A>T; p.?;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.923T>C; p.I308T;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.1587T>C; p.D529D;

large_intestine; coloncarcinoma; adenocarcinoma

c.509A>C; p.K170T;

breastcarcinoma

c.1676A>G; p.N559S;

large_intestine; coloncarcinoma; adenocarcinoma

c.950T>C; p.F317S;

large_intestine; coloncarcinoma; adenocarcinoma

c.2436C>T; p.F812F;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1902C>T; p.D634D;

large_intestine; coloncarcinoma; adenocarcinoma

c.1389C>T; p.I463I;

large_intestine; coloncarcinoma; adenocarcinoma

c.2481C>T; p.N827N;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1843C>T; p.H615Y;

large_intestine; coloncarcinoma; adenocarcinoma

c.1995G>A; p.E665E;

endometriumcarcinoma; endometrioid_carcinoma

c.1521A>G; p.K507K;

endometriumcarcinoma; endometrioid_carcinoma

c.1407C>A; p.F469L;

endometriumcarcinoma; endometrioid_carcinoma

c.2148A>G; p.I716M;

endometriumcarcinoma; endometrioid_carcinoma

c.267A>C; p.E89D;

endometriumcarcinoma; endometrioid_carcinoma

c.2479A>G; p.N827D;

endometriumcarcinoma; endometrioid_carcinoma

c.1553A>G; p.Q518R;

endometriumcarcinoma; endometrioid_carcinoma

c.2408T>G; p.L803R;

endometriumcarcinoma; endometrioid_carcinoma

c.1310G>A; p.S437N;

large_intestine; coloncarcinoma; adenocarcinoma

c.583C>T; p.P195S;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.1559C>T; p.T520M;

endometriumcarcinoma; endometrioid_carcinoma

c.1700A>G; p.Q567R;

large_intestine; coloncarcinoma; adenocarcinoma

c.2172G>C; p.K724N;

breastcarcinoma

c.67G>C; p.E23Q;

large_intestine; rectumcarcinoma; adenocarcinoma

c.205A>T; p.I69F;

endometriumcarcinoma; endometrioid_carcinoma

c.1802C>T; p.P601L;

large_intestine; caecumcarcinoma; adenocarcinoma

c.291G>A; p.Q97Q;

cervixcarcinoma; squamous_cell_carcinoma

c.1934delT; p.F645fs*36;

large_intestine; rectumcarcinoma; adenocarcinoma

c.1758G>A; p.T586T;

urinary_tract; bladdercarcinoma

c.1259C>T; p.P420L;

skinmalignant_melanoma

c.732delC; p.W245fs*48;

skinmalignant_melanoma

c.614G>A; p.G205E;

skinmalignant_melanoma

c.1594C>T; p.L532F;

skin; scalpcarcinoma; squamous_cell_carcinoma

c.31C>T; p.R11W;

stomachadenocarcinoma


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