| Gene ID | 55742 |
| Symbol | PARVA |
| Synonymous | CH-ILKBP|MXRA2 |
| Full name | parvin, alpha |
| Gene description | actopaxin|alpha-parvin|calponin-like integrin-linked kinase-binding protein|matrix-remodeling-associated protein 2 |
| Cytoband | 11p15.3 |
| Gene type | protein-coding |
| Synonymous | MIM:608120; HGNC:HGNC:14652; HPRD:16283 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.766C>G; p.H256D; 11:12513328-12513328 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.900_901GG>TT; p.M300_G301>IW; 11:12517642-12517643 |
lung | carcinoma; adenocarcinoma | Complex - compound substitution |
c.968A>C; p.K323T; 11:12517710-12517710 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.968A>C; p.K323T; 11:12517710-12517710 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.11C>T; p.S4F; 11:12377658-12377658 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.364G>T; p.D122Y; 11:12477913-12477913 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.938T>C; p.F313S; 11:12517680-12517680 |
skin | malignant_melanoma | Substitution - Missense |
c.300A>G; p.V100V; 11:12477849-12477849 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.31G>A; p.V11I; 11:12377678-12377678 |
pancreas | carcinoma | Substitution - Missense |
c.552C>T; p.A184A; 11:12504324-12504324 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.227-1G>T; p.?; 11:12473912-12473912 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.856C>G; p.L286V; 11:12514054-12514054 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.762C>T; p.F254F; 11:12513324-12513324 |
skin | malignant_melanoma | Substitution - coding silent |
c.1012_1013insATGGAG; p.G337_G338insDG; 11:12518487-12518488 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Insertion - In frame |
c.1012_1013insATGGAG; p.G337_G338insDG; 11:12518487-12518488 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Insertion - In frame |
c.1012_1013insATGGAG; p.G337_G338insDG; 11:12518487-12518488 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Insertion - In frame |
c.6C>T; p.A2A; 11:12377653-12377653 |
breast | carcinoma | Substitution - coding silent |
c.79G>T; p.D27Y; 11:12377726-12377726 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.344T>C; p.I115T; 11:12477893-12477893 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.928C>G; p.L310V; 11:12517670-12517670 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.211G>A; p.E71K; 11:12473819-12473819 |
breast | carcinoma | Substitution - Missense |
c.798+2T>G; p.?; 11:12513362-12513362 |
breast | carcinoma | Unknown |
c.798+2T>G; p.?; 11:12513362-12513362 |
breast | carcinoma | Unknown |
c.471G>T; p.L157L; 11:12496528-12496528 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1076G>A; p.R359Q; 11:12527882-12527882 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.818A>G; p.N273S; 11:12514016-12514016 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.797A>G; p.K266R; 11:12513359-12513359 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.577C>T; p.L193L; 11:12504349-12504349 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1111G>A; p.V371M; 11:12527917-12527917 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1111G>A; p.V371M; 11:12527917-12527917 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.798+10G>T; p.?; 11:12513370-12513370 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.605G>A; p.R202H; 11:12504377-12504377 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.605G>A; p.R202H; 11:12504377-12504377 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.661C>A; p.R221R; 11:12508587-12508587 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.611C>G; p.P204R; 11:12504383-12504383 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.669A>G; p.G223G; 11:12508595-12508595 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1032G>A; p.P344P; 11:12518507-12518507 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.606C>T; p.R202R; 11:12504378-12504378 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.606C>T; p.R202R; 11:12504378-12504378 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.606C>T; p.R202R; 11:12504378-12504378 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.775G>A; p.D259N; 11:12513337-12513337 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.517A>G; p.R173G; 11:12496574-12496574 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.330T>C; p.V110V; 11:12477879-12477879 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1031C>T; p.P344L; 11:12518506-12518506 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.947C>A; p.T316N; 11:12517689-12517689 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.947C>A; p.T316N; 11:12517689-12517689 |
pancreas | carcinoma | Substitution - Missense |
c.675C>T; p.L225L; 11:12508601-12508601 |
skin | malignant_melanoma | Substitution - coding silent |
c.616C>T; p.R206*; 11:12504388-12504388 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.984C>T; p.S328S; 11:12518459-12518459 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1019A>G; p.E340G; 11:12518494-12518494 |
liver | carcinoma | Substitution - Missense |
c.1019A>G; p.E340G; 11:12518494-12518494 |
liver | carcinoma | Substitution - Missense |
c.1106G>A; p.R369H; 11:12527912-12527912 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1106G>A; p.R369H; 11:12527912-12527912 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.983C>T; p.S328F; 11:12518458-12518458 |
skin | malignant_melanoma | Substitution - Missense |
c.1110C>T; p.N370N; 11:12527916-12527916 |
pituitary; craniopharyngeal_duct | craniopharyngioma; adamantinomatous | Substitution - coding silent |
c.219G>A; p.T73T; 11:12473827-12473827 |
liver | carcinoma | Substitution - coding silent |
c.219G>A; p.T73T; 11:12473827-12473827 |
liver | carcinoma | Substitution - coding silent |