| Gene ID | 5829 |
| Symbol | PXN |
| Synonymous | - |
| Full name | paxillin |
| Gene description | - |
| Cytoband | 12q24.31 |
| Gene type | protein-coding |
| Synonymous | MIM:602505; HGNC:HGNC:9718; Ensembl:ENSG00000089159; Vega:OTTHUMG00000169169 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.65C>T; p.P22L; 12:120224326-120224326 |
prostate | carcinoma | Substitution - Missense |
c.1510T>C; p.C504R; 12:120212478-120212478 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1544C>T; p.A515V; 12:120212444-120212444 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.439C>T; p.R147C; 12:120222917-120222917 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1089C>T; p.F363F; 12:120214912-120214912 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.641G>A; p.R214Q; 12:120222603-120222603 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1587C>T; p.F529F; 12:120212401-120212401 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.217A>G; p.S73G; 12:120224174-120224174 |
breast | carcinoma | Substitution - Missense |
c.1506T>C; p.S502S; 12:120212482-120212482 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1591C>A; p.L531I; 12:120212397-120212397 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.440G>A; p.R147H; 12:120222916-120222916 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.152delC; p.P51fs*16; 12:120224239-120224239 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1404C>T; p.C468C; 12:120213845-120213845 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.477G>A; p.P159P; 12:120222879-120222879 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1404C>T; p.C468C; 12:120213845-120213845 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.911T>C; p.L304P; 12:120215194-120215194 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1363T>G; p.S455A; 12:120213886-120213886 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.21G>T; p.L7L; 12:120224370-120224370 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.432A>C; p.E144D; 12:120222924-120222924 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1254C>T; p.P418P; 12:120214140-120214140 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.605C>T; p.P202L; 12:120222639-120222639 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1077C>T; p.S359S; 12:120214924-120214924 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.680C>T; p.S227F; 12:120222564-120222564 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.740G>A; p.R247H; 12:120221714-120221714 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.19C>T; p.L7L; 12:120224372-120224372 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.435C>T; p.L145L; 12:120222921-120222921 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.359T>C; p.F120S; 12:120222997-120222997 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.412C>A; p.L138M; 12:120222944-120222944 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1527C>T; p.T509T; 12:120212461-120212461 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.152_153insC; p.P52fs*13; 12:120224238-120224239 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1086C>G; p.F362L; 12:120214915-120214915 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.869delC; p.P290fs*22; 12:120215236-120215236 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.1107C>A; p.P369P; 12:120214894-120214894 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1075T>A; p.S359T; 12:120214926-120214926 |
skin | malignant_melanoma | Substitution - Missense |
c.1292G>A; p.R431H; 12:120213957-120213957 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.458A>T; p.N153I; 12:120222898-120222898 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1145G>A; p.R382H; 12:120214856-120214856 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.402G>A; p.M134I; 12:120222954-120222954 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1483G>A; p.E495K; 12:120212505-120212505 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1275C>T; p.D425D; 12:120213974-120213974 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.443T>C; p.L148P; 12:120222913-120222913 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1458G>T; p.Q486H; 12:120212530-120212530 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.723G>C; p.E241D; 12:120221731-120221731 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1317A>G; p.A439A; 12:120213932-120213932 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1314C>T; p.F438F; 12:120213935-120213935 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1314C>T; p.F438F; 12:120213935-120213935 |
breast | carcinoma | Substitution - coding silent |
c.1261T>C; p.F421L; 12:120213988-120213988 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.720C>A; p.G240G; 12:120221734-120221734 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.65C>A; p.P22H; 12:120224326-120224326 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1134C>T; p.L378L; 12:120214867-120214867 |
skin | malignant_melanoma | Substitution - coding silent |
c.360C>T; p.F120F; 12:120222996-120222996 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1437C>T; p.S479S; 12:120212551-120212551 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.742G>A; p.V248I; 12:120221712-120221712 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.611G>A; p.R204Q; 12:120222633-120222633 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1635G>A; p.K545K; 12:120212353-120212353 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1137C>G; p.F379L; 12:120214864-120214864 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.945G>A; p.G315G; 12:120215160-120215160 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.408G>A; p.T136T; 12:120222948-120222948 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1134C>G; p.L378L; 12:120214867-120214867 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.720C>T; p.G240G; 12:120221734-120221734 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1482C>T; p.H494H; 12:120212506-120212506 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.832-10G>A; p.?; 12:120215283-120215283 |
pancreas | carcinoma | Unknown |
c.1339C>T; p.R447W; 12:120213910-120213910 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1371C>T; p.L457L; 12:120213878-120213878 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - coding silent |
c.876delG; p.P294fs*18; 12:120215229-120215229 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1073G>A; p.G358E; 12:120214928-120214928 |
skin | malignant_melanoma | Substitution - Missense |
c.407C>T; p.T136M; 12:120222949-120222949 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.594G>A; p.T198T; 12:120222650-120222650 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.300T>C; p.P100P; 12:120223774-120223774 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.515C>T; p.P172L; 12:120222729-120222729 |
liver | carcinoma | Substitution - Missense |
c.1505C>A; p.S502Y; 12:120212483-120212483 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1620G>A; p.K540K; 12:120212368-120212368 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1166C>T; p.P389L; 12:120214835-120214835 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |