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HomeAll Cancer Mutant ClonesCDKN2A Mutants

Description of the mutations of CDKN2A (NM_000077) 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
RC400246 H83Y83c.247C>TMissense
RC400250 A57V57c.170C>TMissense
RC400254 L78fs*4178c.233_234delTCFrameshift
RC400255 P81L81c.242C>TMissense
RC400259 P75fs*75c.225delCFrameshift
RC400260 V126D126c.377T>AMissense
RC400264 R58*58c.172C>TTruncation
RC400265 E88*88c.262G>TTruncation
RC400266 W110*110c.329G>ATruncation
RC400253 A68T68c.202G>AMissense
RC400247 D108Y108c.322G>TMissense
RC400251 P48L48c.143C>TMissense
RC400256 D84Y84c.250G>TMissense
RC400261 R24P24c.71G>CMissense
RC400267 E120*120c.358G>TTruncation
RC400245 E27D27c.81G>CMissense
RC400262 M52I52c.156G>CMissense
RC400263 R80*80c.238C>TTruncation
RC400249 D108N108c.322G>AMissense
RC400258 L65P65c.194T>CMissense
RC400244 G101W101c.301G>TMissense
RC400248 D108H108c.322G>CMissense
RC400252 P114L114c.341C>TMissense
RC400257 S43I43c.128G>TMissense


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