Transcript #00004981 (NM_014679.4, CEP57 gene)

Transcript name transcript variant 1
Gene name CEP57 (centrosomal protein 57kDa)
Chromosome 11
Transcript - NCBI ID NM_014679.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_055494.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

34 entries on 1 page. Showing entries 1 - 34.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-4483C>T r.(?) p.(=)
-?/. - c.25G>A r.(?) p.(Ala9Thr)
-?/. - c.46-3721C>T r.(=) p.(=)
-?/. - c.46-3718A>T r.(=) p.(=)
-?/. - c.46-3718_46-3717del r.(=) p.(=)
-?/. - c.46-3717G>T r.(=) p.(=)
?/. - c.46-3690A>G r.(=) p.(=)
?/. - c.89G>A r.(?) p.(Arg30Gln)
?/. - c.95C>T r.(?) p.(Ser32Phe)
+?/. 3 c.241C>T r.(?) p.(Arg81*)
-?/. - c.333G>C r.(?) p.(Gln111His)
-?/. - c.422A>G r.(?) p.(Asn141Ser)
-?/. - c.490G>A r.(?) p.(Val164Ile)
-?/. - c.501A>G r.(?) p.(Lys167=)
+?/. 5 c.520_521del r.(?) p.(Glu174Thrfs*4)
+?/. 5 c.520_521del r.(?) p.(Glu174Thrfs*4)
?/. - c.677G>A r.(?) p.(Arg226His)
+?/. - c.692C>T r.(?) p.(Ala231Val)
-?/. - c.807+3G>A r.spl? p.?
+?/. 9 c.915_925dup r.(?) p.(Leu309Profs*9)
+?/. 9 c.915_925dup r.(?) p.(Leu309Profs*9)
+?/. 9 c.915_925dup r.(?) p.(Leu309Profs*9)
-/. - c.1342A>G r.(?) p.(Arg448Gly)
?/. - c.1368del r.(?) p.(Thr457GlnfsTer10)
-?/. - c.*4069C>T r.(=) p.(=)
?/. - c.*4104C>T r.(=) p.(=)
-?/. - c.*4111A>G r.(=) p.(=)
?/. - c.*4115C>G r.(=) p.(=)
+/. - c.*4161G>C r.(=) p.(=)
-?/. - c.*4873_*4878del r.(=) p.(=)
-?/. - c.*4880_*4885del r.(=) p.(=)
-/. - c.*4906G>T r.(=) p.(=)
+/. - c.*4913C>T r.(=) p.(=)
+/. - c.*5028T>C r.(=) p.(=)
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