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HomeAll Cancer Mutant ClonesBRAF Mutants

Description of the mutations of BRAF (NM_004333) Mutants

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 Codon#Affected NT#DescriptionEffectAffected Protein Domain
RC400154 V600A600c.1799T>Cmissensekinase
RC400155 V600E600c.1799T>Amissensekinase
RC400156 V600G600c.1799T>Gmissensekinase
RC400157 V600M600c.1798G>Amissensekinase
RC400158 V600D600c.1799_1800TG>ATmissensekinase
RC400159 V600R600c.1798_1799GT>AGmissensekinase
RC400160 V600K600c.1798_1799GT>AAmissensekinase
RC400321 L597Q597c.1790T>AMissense 
RC400322 L597V597c.1789C>GMissense 
RC400323 G469E469c.1406G>AMissense 
RC400324 G469A469c.1406G>CMissense 
RC400325 K601E601c.1801A>GMissense 
RC400326 G466V466c.1397G>TMissense 
RC400327 Y472S472c.1415A>CMissense 
RC400328 G464V464c.1391G>TMissense 
RC402700 T241P241721A>CCostello syndrome 
RC402701 T244P244730A>CCardio-facio-cutaneous syndrome 
RC402702 A246P246736G>CCardio-facio-cutaneous syndrome 
RC402703 Q257R257770A>GCardio-facio-cutaneous syndrome 
RC402704 Q257K257769C>ACardio-facio-cutaneous syndrome 
RC402705 Q262R262785A>GCardio-facio-cutaneous syndrome 
RC402706 Q262K262784C>ACardio-facio-cutaneous syndrome 
RC402707 G464R4641390G>CCardio-facio-cutaneous syndrome 
RC402708 S467A4671399T>GCardio-facio-cutaneous syndrome 
RC402709 F468S4681403T>CCardio-facio-cutaneous syndrome 
RC402710 L485F4851455G>CCardio-facio-cutaneous syndrome 
RC402711 L485S4851454T>CCardio-facio-cutaneous syndrome 
RC402712 v487G4871460T>GCardio-facio-cutaneous syndrome 
RC402713 K499N4991497A>CCardio-facio-cutaneous syndrome 
RC402714 K499E4991495A>GCardio-facio-cutaneous syndrome 
RC402715 E501G5011502A>GCardio-facio-cutaneous syndrome 
RC402716 E501v5011502A>TCardio-facio-cutaneous syndrome 
RC402717 E501K5011501G>ACardio-facio-cutaneous syndrome 
RC402718 L525P5251574T>CCardio-facio-cutaneous syndrome 
RC402719 G534R5341600G>CCardio-facio-cutaneous syndrome 
RC402720 D565E5651695T>GCardio-facio-cutaneous syndrome 
RC402721 N580D5801738A>GCardio-facio-cutaneous syndrome 
RC402722 N581D5811741A>GCardio-facio-cutaneous syndrome 
RC402723 F595L5951785T>GCardio-facio-cutaneous syndrome 
RC402724 F595L5951785T>ACardio-facio-cutaneous syndrome 
RC402725 G596v5961787G>TCardio-facio-cutaneous syndrome 
RC402726 T599R5991796C>GCardio-facio-cutaneous syndrome 
RC402727 D638E6381914T>ACardio-facio-cutaneous syndrome 

 

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