| 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; arm | malignant_melanoma |
c.694C>T; p.P232S; |
lung | carcinoma; small_cell_carcinoma |
c.172C>T; p.H58Y; |
liver | carcinoma; hepatocellular_carcinoma |
c.833G>A; p.R278Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.962G>A; p.R321H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1160G>A; p.R387H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.986C>T; p.A329V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.727C>T; p.R243C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.591C>A; p.F197L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.342C>G; p.Y114*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2541T>C; p.N847N; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.255C>T; p.Y85Y; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.856-2A>C; p.?; |
oesophagus | carcinoma; adenocarcinoma |
c.1828-2A>C; p.?; |
oesophagus | carcinoma; adenocarcinoma |
c.1203G>T; p.L401F; |
oesophagus | carcinoma; adenocarcinoma |
c.805G>T; p.D269Y; |
lung | carcinoma; adenocarcinoma |
c.1654A>T; p.T552S; |
lung | carcinoma; adenocarcinoma |
c.2113G>T; p.G705W; |
lung | carcinoma; adenocarcinoma |
c.1037C>A; p.A346E; |
liver | carcinoma |
c.1359G>T; p.V453V; |
liver | carcinoma; hepatocellular_carcinoma |
c.1685C>T; p.S562F; |
lung | carcinoma; adenocarcinoma |
c.442A>T; p.M148L; |
lung | carcinoma; adenocarcinoma |
c.1617G>C; p.K539N; |
lung | carcinoma; adenocarcinoma |
c.2427G>A; p.S809S; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.809G>A; p.R270Q; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.2254_2255insT; p.S752fs*6; |
skin; trunk | malignant_melanoma |
c.2254_2255insT; p.S752fs*6; |
skin; trunk | malignant_melanoma |
c.2088C>A; p.A696A; |
autonomic_ganglia | neuroblastoma |
c.1654A>T; p.T552S; |
lung | carcinoma; bronchioloalveolar_adenocarcinoma |
c.2537G>T; p.G846V; |
NS | NS |
c.485A>G; p.Y162C; |
liver | carcinoma |
c.581G>T; p.R194L; |
lung | carcinoma; small_cell_carcinoma |
c.802C>A; p.L268M; |
prostate | adenoma |
c.904G>A; p.A302T; |
prostate | carcinoma |
c.1650G>T; p.L550L; |
lung | carcinoma; squamous_cell_carcinoma |
c.510G>T; p.K170N; |
lung | carcinoma; squamous_cell_carcinoma |
c.524G>T; p.W175L; |
lung | carcinoma; squamous_cell_carcinoma |
c.965G>T; p.G322V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1882G>T; p.A628S; |
lung | carcinoma; adenocarcinoma |
c.1837G>C; p.G613R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.153C>T; p.D51D; |
ovary | carcinoma; serous_carcinoma |
c.514C>T; p.R172*; |
lung | carcinoma; squamous_cell_carcinoma |
c.346-2A>T; p.?; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.923T>C; p.I308T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1587T>C; p.D529D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.509A>C; p.K170T; |
breast | carcinoma |
c.1676A>G; p.N559S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.950T>C; p.F317S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2436C>T; p.F812F; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1902C>T; p.D634D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1389C>T; p.I463I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2481C>T; p.N827N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1843C>T; p.H615Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1995G>A; p.E665E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1521A>G; p.K507K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1407C>A; p.F469L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2148A>G; p.I716M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.267A>C; p.E89D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2479A>G; p.N827D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1553A>G; p.Q518R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2408T>G; p.L803R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1310G>A; p.S437N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.583C>T; p.P195S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1559C>T; p.T520M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1700A>G; p.Q567R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2172G>C; p.K724N; |
breast | carcinoma |
c.67G>C; p.E23Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.205A>T; p.I69F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1802C>T; p.P601L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.291G>A; p.Q97Q; |
cervix | carcinoma; squamous_cell_carcinoma |
c.1934delT; p.F645fs*36; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1758G>A; p.T586T; |
urinary_tract; bladder | carcinoma |
c.1259C>T; p.P420L; |
skin | malignant_melanoma |
c.732delC; p.W245fs*48; |
skin | malignant_melanoma |
c.614G>A; p.G205E; |
skin | malignant_melanoma |
c.1594C>T; p.L532F; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.31C>T; p.R11W; |
stomach | adenocarcinoma |