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Activation of the Ca2+-sensing receptor increases renal claudin-14 expression and urinary Ca2+ excretion Am J Physiol Renal Physiol, Mar 2013; 304: F761 - F769. [Cldn14]

An SRF/miR-1 axis regulates NCX1 and Annexin A5 protein levels in the normal and failing heart Cardiovasc Res, Mar 2013; 10.1093/cvr/cvt042. [JunD]

Betaglycan Alters NFB-TGFß2 Cross Talk to Reduce Survival of Human Granulosa Tumor Cells Mol. Endocrinol., Mar 2013; 27: 466 - 479. [SMAD3]

Cathepsin B and uPAR regulate self-renewal of glioma-initiating cells through GLI-regulated Sox2 and Bmi1 expression Carcinogenesis, Mar 2013; 34: 550 - 559. [cathepsin B]

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HomeAll Cancer Mutant ClonesTP53 Mutants

Description of the mutations of TP53 (NM_000546) Mutants

Reference:

95 Driver mutations in TP53 are ubiquitous in high grade serous carcinoma of the ovary
J. Pathol. 2010; 221: 49-56

Keys for Mutation Description

A.A. substitution
Truncation
NT deletion
NT insertion
R280G: Arg at aa-position 280 mutated to Gly
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted

 

SKUMutation DescriptionAffected Exon/IntronAffected Codon#Affected NT#DescriptionEffectAffected Protein Domain
RC400001 N258-D134-exon86c.258del13Frame Shiftproline-rich
RC400002 N292-D14-exon98c.292del4Frame ShiftN/A
RC400003 N542-D245-exon181c.542del24Frame ShiftDNA binding
RC400004 N683-D47-exon228c.683del4Frame ShiftDNA binding
RC400005 N715-D77-exon239c.715del7Frame ShiftDNA binding
RC400006 N764-D25I17-exon255c.764del25ins1Frame ShiftDNA binding
RC400007 N783-D157-exon/Int261c.783-12del15Frame ShiftDNA binding
RC400008 N868-D18-exon290c.868del4Frame ShiftDNA binding
RC400009 N1024-D1010-exon342c.1024del10Frame Shiftoligomerisation
RC400010 N322-D64-exon108c.322del6otherDNA binding
RC400011 N478-I65-exon160c.478ins6otherDNA binding
RC400012 N206-D14-exon69c.206del1Frame Shiftproline-rich
RC400013 N268_D24-exon90c.268del2Frame Shiftproline-rich
RC400014 N286-D14-exon96c.286del1Frame Shiftproline-rich
RC400015 N342-I24-exon114c.342ins1Frame ShiftDNA binding
RC400016 N365-D24-exon122c.365del2Frame ShiftDNA binding
RC400017 N393-D15-exon131c.393del1Frame ShiftDNA binding
RC400018 N439-D15-exon147c.439del1Frame ShiftDNA binding
RC400019 N443-D25-exon148c.443del2Frame ShiftDNA binding
RC400020 N590-D16-exon197c.590del1Frame ShiftDNA binding
RC400021 N610-D16-exon204c.610del1Frame ShiftDNA binding
RC400022 N634-D16-exon212c.636del1Frame ShiftDNA binding
RC400023 N747-D17-exon249c.747del1Frame ShiftDNA binding
RC400024 N887-D18-exon296c.887del1Frame ShiftN/A
RC400025 N1039-D110-exon347c.1039del1Frame Shiftoligomerisation
RC400026 N887-D12I18-exon296c.887del2ins1Frame ShiftN/A
RC400027 Y107D4-exon107c.319T to GmissenseDNA binding
RC400028 C124X4-exon124c.371GC to AAnonsenseDNA binding
RC400029 S127P5-exon127c.379T to CmissenseDNA binding
RC400030 L130H5-exon130c.389T to AmissenseDNA binding
RC400031 C141Y5-exon141c.422G to AmissenseDNA binding
RC400032 P151S5-exon151c.451C to TmissenseDNA binding
RC400033 P151H5-exon151c.452C to AmissenseDNA binding
RC400034 V157F5-exon157c.469G to TmissenseDNA binding
RC400035 Y163H5-exon163c.487T to CmissenseDNA binding
RC400036 Y163D5-exon163c.487T to GmissenseDNA binding
RC400037 Y163C5-exon163c.488A to GmissenseDNA binding
RC400038 H168P5-exon168c.503A to CmissenseDNA binding
RC400039 V173M5-exon173c.517G to AmissenseDNA binding
RC400040 R175H5-exon175c.524G to AmissenseDNA binding
RC400041 H178P5-exon178c.533A to CmissenseDNA binding
RC400042 H179R5-exon179c.536A to GmissenseDNA binding
RC400043 H179Q5-exon179c.537T to AmissenseDNA binding
RC400044 H193R6-exon193c.578A to GmissenseDNA binding
RC400045 I195N6-exon195c.584T to AmissenseDNA binding
RC400046 I195T6-exon195c.584T to CmissenseDNA binding
RC400047 Y205C6-exon205c.614A to GmissenseDNA binding
RC400048 S215I6-exon215c.644G to TmissenseDNA binding
RC400049 S215R6-exon215c.645T to GmissenseDNA binding
RC400050 V218G6-exon218c.653T to GmissenseDNA binding
RC400051 Y220H6-exon220c.658T to CmissenseDNA binding
RC400052 Y220C6-exon220c.659A to GmissenseDNA binding
RC400053 Y234C7-exon234c.701A to GmissenseDNA binding
RC400054 C238G7-exon238c.712T to GmissenseDNA binding
RC400055 C238Y7-exon238c.713G to AmissenseDNA binding
RC400056 S241Y7-exon241c.722C to AmissenseDNA binding
RC400057 S241F7-exon241c.722C to TmissenseDNA binding
RC400058 G245S7-exon245c.733G to AmissenseDNA binding
RC400059 G245D7-exon245c.734G to AmissenseDNA binding
RC400060 G245V7-exon245c.734G to TmissenseDNA binding
RC400061 M246V7-exon246c.736A to GmissenseDNA binding
RC400062 R248G7-exon248c.742C to GmissenseDNA binding
RC400063 R248W7-exon248c.742C to TmissenseDNA binding
RC400064 R248Q7-exon248c.743G to AmissenseDNA binding
RC400065 R249G7-exon249c.745A to GmissenseDNA binding
RC400066 R249M7-exon249c.746G to TmissenseDNA binding
RC400067 L257Q7-exon257c.770T to AmissenseDNA binding
RC400068 L257P7-exon257c.770T to CmissenseDNA binding
RC400069 E258K7-exon258c.772G to AmissenseDNA binding
RC400070 D259Y7-exon259c.775G to TmissenseDNA binding
RC400071 V272M8-exon272c.814G to AmissenseDNA binding
RC400072 R273C8-exon273c.817C to TmissenseDNA binding
RC400073 R273H8-exon273c.818G to AmissenseDNA binding
RC400074 R273L8-exon273c.818G to TmissenseDNA binding
RC400075 V274F8-exon274c.820G to TmissenseDNA binding
RC400076 C275Y8-exon275c.824G to AmissenseDNA binding
RC400077 P278S8-exon278c.832C to TmissenseDNA binding
RC400078 R280G8-exon280c.838A to GmissenseDNA binding
RC400079 D281G8-exon281c.842A to GmissenseDNA binding
RC400080 R282W8-exon282c.844C to TmissenseDNA binding
RC400081 E286K8-exon286c.856G to AmissenseDNA binding
RC400082 C141X5-exon141c.423C to AnonsenseDNA binding
RC400083 Q165X5-exon165c.493C to TnonsenseDNA binding
RC400084 Q167X5-exon167c.499C to TnonsenseDNA binding
RC400085 Q192X6-exon192c.574C to TnonsenseDNA binding
RC400086 R213X6-exon213c.637C to TnonsenseDNA binding
RC400087 K291X8-exon291c.871A to TnonsenseDNA binding
RC400088 K292X8-exon292c.874A to TnonsenseDNA binding
RC400089 R306X8-exon306c.916C to TnonsenseN/A
RC400090 R342X10-exon342c.1024C to Tnonsenseoligomerisation
RC400091 E343X10-exon343c.1027G to Tnonsenseoligomerisation
RC400092 E349X10-exon349c.1045G to Tnonsenseoligomerisation
RC400093 N681-I17-exon227c.681ins1Frame ShiftDNA binding
RC400094 N731-D17-exon244c.731del1Frame ShiftDNA binding
RC400095 N536-D13I15-exon180c.538del3ins1Frame ShiftDNA binding

 

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