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HomeAll Cancer Mutant ClonesCDKN1C Mutants

Description of the mutations of CDKN1C (NM_000076) Mutants

Keys for Mutation Description

A.A. substitution
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 Codon#Affected NT#DescriptionEffect
RC401063 L33R3398T>GBeckwith-Wiedemann syndrome
RC401064 L42P42125T>CBeckwith-Wiedemann syndrome
RC401065 Q47X47139C>TBeckwith-Wiedemann syndrome
RC401066 L50P50149T>CBeckwith-Wiedemann syndrome
RC401067 P70L70209C>TBeckwith-Wiedemann syndrome
RC401068 Q230X230688C>TBeckwith-Wiedemann syndrome
RC401069 Q241X241721C>TBeckwith-Wiedemann syndrome
RC401070 S247X247740C>ABeckwith-Wiedemann syndrome
RC401071 S282X282845C>GBeckwith-Wiedemann syndrome
RC401072 R316W316946C>TBeckwith-Wiedemann syndrome


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