Cancer metastasis database

Annotation category 5

Gene information

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

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.766C>G; p.H256D; 11:12513328-12513328

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.900_901GG>TT; p.M300_G301>IW; 11:12517642-12517643

lungcarcinoma; adenocarcinomaComplex - compound substitution

c.968A>C; p.K323T; 11:12517710-12517710

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.968A>C; p.K323T; 11:12517710-12517710

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.11C>T; p.S4F; 11:12377658-12377658

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.364G>T; p.D122Y; 11:12477913-12477913

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.938T>C; p.F313S; 11:12517680-12517680

skinmalignant_melanomaSubstitution - Missense

c.300A>G; p.V100V; 11:12477849-12477849

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.31G>A; p.V11I; 11:12377678-12377678

pancreascarcinomaSubstitution - Missense

c.552C>T; p.A184A; 11:12504324-12504324

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.227-1G>T; p.?; 11:12473912-12473912

endometriumcarcinoma; endometrioid_carcinomaUnknown

c.856C>G; p.L286V; 11:12514054-12514054

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.762C>T; p.F254F; 11:12513324-12513324

skinmalignant_melanomaSubstitution - coding silent

c.1012_1013insATGGAG; p.G337_G338insDG; 11:12518487-12518488

breastcarcinoma; basal_(triple-negative)_carcinomaInsertion - In frame

c.1012_1013insATGGAG; p.G337_G338insDG; 11:12518487-12518488

breastcarcinoma; basal_(triple-negative)_carcinomaInsertion - In frame

c.1012_1013insATGGAG; p.G337_G338insDG; 11:12518487-12518488

breastcarcinoma; basal_(triple-negative)_carcinomaInsertion - In frame

c.6C>T; p.A2A; 11:12377653-12377653

breastcarcinomaSubstitution - coding silent

c.79G>T; p.D27Y; 11:12377726-12377726

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.344T>C; p.I115T; 11:12477893-12477893

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.928C>G; p.L310V; 11:12517670-12517670

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.211G>A; p.E71K; 11:12473819-12473819

breastcarcinomaSubstitution - Missense

c.798+2T>G; p.?; 11:12513362-12513362

breastcarcinomaUnknown

c.798+2T>G; p.?; 11:12513362-12513362

breastcarcinomaUnknown

c.471G>T; p.L157L; 11:12496528-12496528

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1076G>A; p.R359Q; 11:12527882-12527882

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.818A>G; p.N273S; 11:12514016-12514016

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.797A>G; p.K266R; 11:12513359-12513359

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.577C>T; p.L193L; 11:12504349-12504349

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1111G>A; p.V371M; 11:12527917-12527917

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1111G>A; p.V371M; 11:12527917-12527917

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.798+10G>T; p.?; 11:12513370-12513370

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.605G>A; p.R202H; 11:12504377-12504377

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.605G>A; p.R202H; 11:12504377-12504377

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.661C>A; p.R221R; 11:12508587-12508587

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.611C>G; p.P204R; 11:12504383-12504383

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.669A>G; p.G223G; 11:12508595-12508595

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1032G>A; p.P344P; 11:12518507-12518507

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.606C>T; p.R202R; 11:12504378-12504378

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.606C>T; p.R202R; 11:12504378-12504378

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.606C>T; p.R202R; 11:12504378-12504378

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.775G>A; p.D259N; 11:12513337-12513337

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.517A>G; p.R173G; 11:12496574-12496574

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.330T>C; p.V110V; 11:12477879-12477879

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1031C>T; p.P344L; 11:12518506-12518506

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.947C>A; p.T316N; 11:12517689-12517689

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.947C>A; p.T316N; 11:12517689-12517689

pancreascarcinomaSubstitution - Missense

c.675C>T; p.L225L; 11:12508601-12508601

skinmalignant_melanomaSubstitution - coding silent

c.616C>T; p.R206*; 11:12504388-12504388

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.984C>T; p.S328S; 11:12518459-12518459

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1019A>G; p.E340G; 11:12518494-12518494

livercarcinomaSubstitution - Missense

c.1019A>G; p.E340G; 11:12518494-12518494

livercarcinomaSubstitution - Missense

c.1106G>A; p.R369H; 11:12527912-12527912

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1106G>A; p.R369H; 11:12527912-12527912

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.983C>T; p.S328F; 11:12518458-12518458

skinmalignant_melanomaSubstitution - Missense

c.1110C>T; p.N370N; 11:12527916-12527916

pituitary; craniopharyngeal_ductcraniopharyngioma; adamantinomatousSubstitution - coding silent

c.219G>A; p.T73T; 11:12473827-12473827

livercarcinomaSubstitution - coding silent

c.219G>A; p.T73T; 11:12473827-12473827

livercarcinomaSubstitution - coding silent