| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 5255 |
Name | PHKA1 |
Synonymous | PHKA;phosphorylase kinase, alpha 1 (muscle);PHKA1;phosphorylase kinase, alpha 1 (muscle) |
Definition | phosphorylase b kinase regulatory subunit alpha skeletal muscle isoform|phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform|phosphorylase kinase alpha M subunit|phosphorylase kinase, alpha 1 (muscle), muscle glycogenosis |
Position | Xq12-q13 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for PHKA1 | ||
PCGP somatic mutation [Top] | ||
There is no record for PHKA1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.938A>G; p.Y313C; |
lung | carcinoma; small_cell_carcinoma |
c.388T>G; p.W130G; |
skin; foot | malignant_melanoma; acral_lentiginous |
c.786G>A; p.V262V; |
NS | malignant_melanoma |
c.786G>A; p.V262V; |
NS | malignant_melanoma |
c.3166C>T; p.R1056C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3098G>A; p.S1033N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.197A>C; p.D66A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1855A>G; p.M619V; |
lung | carcinoma |
c.1855A>G; p.M619V; |
lung | carcinoma; adenocarcinoma |
c.2781G>T; p.M927I; |
liver | carcinoma; hepatocellular_carcinoma |
c.2420G>A; p.R807K; |
liver | carcinoma; hepatocellular_carcinoma |
c.3320T>G; p.F1107C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1348G>T; p.E450*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1883A>G; p.Y628C; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.579G>A; p.G193G; |
skin; head_neck | malignant_melanoma; superficial_spreading |
c.2607-6C>T; p.?; |
skin; leg | malignant_melanoma |
c.2607-6C>T; p.?; |
skin; leg | malignant_melanoma |
c.3411G>T; p.L1137L; |
lung | carcinoma; adenocarcinoma |
c.463A>G; p.I155V; |
lung | carcinoma; adenocarcinoma |
c.2917G>A; p.V973I; |
lung | carcinoma; adenocarcinoma |
c.199C>A; p.R67R; |
lung | carcinoma; adenocarcinoma |
c.1383C>T; p.Y461Y; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.2286C>T; p.D762D; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.3043C>T; p.R1015C; |
NS | malignant_melanoma |
c.1048G>A; p.E350K; |
skin; trunk | malignant_melanoma |
c.3197G>T; p.R1066I; |
autonomic_ganglia | neuroblastoma |
c.2527-1G>T; p.?; |
breast | carcinoma; ductal_carcinoma |
c.537+8C>A; p.?; |
liver | carcinoma |
c.3167G>C; p.R1056P; |
lung | carcinoma; small_cell_carcinoma |
c.2952T>C; p.I984I; |
lung | carcinoma; small_cell_carcinoma |
c.260G>T; p.G87V; |
lung | carcinoma; small_cell_carcinoma |
c.448G>T; p.A150S; |
lung | carcinoma; small_cell_carcinoma |
c.1594C>A; p.L532M; |
lung | carcinoma; small_cell_carcinoma |
c.3633G>A; p.V1211V; |
autonomic_ganglia | neuroblastoma |
c.1472G>C; p.R491T; 23:71772949-71772949 |
ovary | carcinoma; serous_carcinoma |
c.2404C>T; p.R802W; 23:71747725-71747725 |
ovary | carcinoma; serous_carcinoma |
c.1780T>A; p.F594I; |
ovary | carcinoma; serous_carcinoma |
c.1396G>T; p.A466S; 23:71781000-71781000 |
ovary | carcinoma; serous_carcinoma |
c.3076C>A; p.P1026T; |
ovary | carcinoma; serous_carcinoma |
c.2971G>A; p.A991T; |
lung | carcinoma; squamous_cell_carcinoma |
c.2405G>A; p.R802Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.79-2A>G; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.2729G>T; p.G910V; |
lung | carcinoma; squamous_cell_carcinoma |
c.193G>T; p.A65S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1652G>A; p.C551Y; |
lung | carcinoma; adenocarcinoma |
c.2067C>G; p.F689L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2269C>T; p.Q757*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3397G>C; p.V1133L; |
lung | carcinoma; squamous_cell_carcinoma |
c.1201A>T; p.M401L; |
lung | carcinoma; squamous_cell_carcinoma |
c.1486_1487GG>TA; p.G496*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3598A>G; p.M1200V; |
lung | carcinoma; adenocarcinoma |
c.1386G>A; p.V462V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2093A>T; p.D698V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2092G>C; p.D698H; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.28C>T; p.R10W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2995C>T; p.R999*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.193G>A; p.A65T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3349C>T; p.R1117C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2911C>T; p.R971*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1489C>T; p.R497*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3630C>T; p.Y1210Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1348G>T; p.E450*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1711C>A; p.L571I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3379C>A; p.L1127M; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2756G>A; p.R919Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2911C>T; p.R971*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3456A>C; p.E1152D; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1350A>C; p.E450D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3304C>T; p.P1102S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1547C>T; p.T516I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3279T>C; p.P1093P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3202C>T; p.P1068S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2512G>A; p.E838K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2619T>C; p.Y873Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3173G>T; p.R1058I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2242C>T; p.R748C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1020C>A; p.V340V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.928C>T; p.R310C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2381G>T; p.W794L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3112C>G; p.P1038A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3435C>T; p.I1145I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1767G>A; p.M589I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1282C>T; p.R428C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3298-1G>A; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1050_1058delATATAAAGA; p.Y351_E353delYKE; |
breast | carcinoma |
c.3091A>T; p.T1031S; |
breast | carcinoma |
c.2653G>A; p.E885K; |
cervix | carcinoma; squamous_cell_carcinoma |
c.2148G>A; p.M716I; |
urinary_tract; bladder | carcinoma |
c.1869T>C; p.P623P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3478G>T; p.D1160Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3321C>A; p.F1107L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2855C>T; p.S952L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.860T>G; p.L287R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2884C>A; p.L962I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1140C>T; p.V380V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3354A>G; p.V1118V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1473A>G; p.R491R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1838G>A; p.C613Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2590G>T; p.E864*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2156C>A; p.P719H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2090G>T; p.C697F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1754C>T; p.A585V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2920C>A; p.R974S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1473A>G; p.R491R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2836C>T; p.L946L; |
breast | carcinoma |
c.2431A>G; p.T811A; |
breast | carcinoma |
c.2405G>T; p.R802L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1715-1G>C; p.?; |
urinary_tract; bladder | carcinoma |
c.1870G>A; p.E624K; |
urinary_tract; bladder | carcinoma |
c.1639C>T; p.L547F; |
breast | carcinoma |
c.2101T>G; p.S701A; |
urinary_tract; bladder | carcinoma |
c.1471A>T; p.R491*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2078T>A; p.V693E; |
prostate | carcinoma; adenocarcinoma |
c.3404C>T; p.T1135I; |
skin | malignant_melanoma |
c.2933C>T; p.S978L; |
skin | malignant_melanoma |
c.2051G>A; p.G684E; |
skin | malignant_melanoma |
c.1229G>A; p.G410E; |
skin | malignant_melanoma |
c.2102C>T; p.S701F; |
skin | malignant_melanoma |
c.1760G>A; p.R587Q; |
skin | malignant_melanoma |
c.3228G>A; p.W1076*; |
skin | malignant_melanoma |
c.1886G>A; p.S629N; |
skin | malignant_melanoma |
c.2062C>T; p.R688W; |
skin | malignant_melanoma |
c.1282C>T; p.R428C; |
skin | malignant_melanoma |
c.3251G>A; p.G1084E; |
skin | malignant_melanoma |
c.1435C>T; p.L479F; |
skin | malignant_melanoma |
c.1246G>A; p.G416R; |
skin; mucosal | malignant_melanoma |
c.622G>A; p.A208T; |
skin; mucosal | malignant_melanoma |
c.2851C>T; p.P951S; |
skin; mucosal | malignant_melanoma |
c.292A>G; p.K98E; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |