Transcript #00000035

Transcript name transcript variant 1
Gene name CHEK2 (checkpoint kinase 2)
Chromosome 22
Transcript - NCBI ID NM_007194.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_009125.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

299 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-4C>T r.(=) p.(=)
./. - c.100C>T r.(?) p.(Gln34*)
./. - c.134C>T r.(?) p.(Thr45Met)
./. - c.176C>T r.(?) p.(Thr59Ile)
./. - c.189A>G r.(=) p.(=)
./. - c.189A>G r.(=) p.(=)
./. - c.190G>A r.(?) p.(Glu64Lys)
./. - c.190G>A r.(?) p.(Glu64Lys)
./. - c.190G>A r.(?) p.(Glu64Lys)
./. - c.190G>A r.(?) p.(Glu64Lys)
./. - c.222del r.(?) p.(Pro75Leufs*35)
./. - c.239C>A r.(?) p.(Pro80His)
./. - c.284G>C r.(?) p.(Arg95Pro)
./. - c.319+17T>C r.(=) p.(=)
./. - c.319+353G>A r.(=) p.(=)
./. - c.319+378_319+379insGAA r.(=) p.(=)
./. - c.319+380C>T r.(=) p.(=)
./. - c.319+380C>T r.(=) p.(=)
./. - c.319+381_319+382insAAGGT r.(=) p.(=)
./. - c.319+411C>T r.(=) p.(=)
./. - c.319+411C>T r.(=) p.(=)
./. - c.410G>A r.(?) p.(Arg137Gln)
./. - c.410G>A r.(?) p.(Arg137Gln)
./. - c.410G>A r.(?) p.(Arg137Gln)
./. - c.410G>A r.(?) p.(Arg137Gln)
./. - c.410G>A r.(?) p.(Arg137Gln)
./. - c.410G>A r.(?) p.(Arg137Gln)
./. - c.410G>A r.(?) p.(Arg137Gln)
./. - c.410G>A r.(?) p.(Arg137Gln)
./. - c.410G>A r.(?) p.(Arg137Gln)
./. - c.433C>T r.(?) p.(Arg145Trp)
./. - c.433C>T r.(?) p.(Arg145Trp)
./. - c.434G>C r.(?) p.(Arg145Pro)
./. - c.442A>G r.(?) p.(Arg148Gly)
./. - c.444+24C>T r.(=) p.(=)
./. - c.444+47A>C r.(=) p.(=)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
+?/-? - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.470T>C r.(?) p.(Ile157Thr)
./. - c.480A>G r.(?) p.(Ile160Met)
./. - c.480A>G r.(?) p.(Ile160Met)
./. - c.480A>G r.(?) p.(Ile160Met)
./. - c.480A>G r.(?) p.(Ile160Met)
./. - c.480A>G r.(?) p.(Ile160Met)
./. - c.480A>G r.(?) p.(Ile160Met)
./. - c.480A>G r.(?) p.(Ile160Met)
./. - c.480A>G r.(?) p.(Ile160Met)
./. - c.480A>G r.(?) p.(Ile160Met)
./. - c.480A>G r.(?) p.(Ile160Met)
./. - c.483_484insAGAA r.(?) p.(Asp162Argfs*25)
./. - c.483_484insAGAA r.(?) p.(Asp162Argfs*25)
./. - c.483_484insAGAA r.(?) p.(Asp162Argfs*25)
./. - c.499G>A r.(?) p.(Gly167Arg)
./. - c.499G>A r.(?) p.(Gly167Arg)
./. - c.499G>A r.(?) p.(Gly167Arg)
./. - c.499G>A r.(?) p.(Gly167Arg)
./. - c.499G>A r.(?) p.(Gly167Arg)
./. - c.507del r.(?) p.(Phe169Leufs*2)
./. - c.507del r.(?) p.(Phe169Leufs*2)
./. - c.539G>A r.(?) p.(Arg180His)
./. - c.539G>A r.(?) p.(Arg180His)
./. - c.539G>A r.(?) p.(Arg180His)
./. - c.539G>A r.(?) p.(Arg180His)
./. - c.539G>A r.(?) p.(Arg180His)
./. - c.541C>T r.(?) p.(Arg181Cys)
./. - c.541C>T r.(?) p.(Arg181Cys)
./. - c.549G>C r.(?) p.(Leu183Phe)
./. - c.549G>C r.(?) p.(Leu183Phe)
./. - c.592+3A>T r.spl? p.?
./. - c.592+3A>T r.spl? p.?
./. - c.592+50A>T r.(=) p.(=)
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