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HomeAll Cancer Mutant ClonesGPC3 Mutants

Description of the mutations of GPC3 (NM_004484) 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#DescriptionEffect
RC402730 C65X65195T>ASimpson-Golbi-Behmel syndrome
RC402731 R86X86256C>TSimpson-Golbi-Behmel syndrome
RC402732 R199X199595C>TSimpson-Golbi-Behmel syndrome
RC402733 G200R200598G>ASimpson-Golbi-Behmel syndrome
RC402734 Q231X231691C>TSimpson-Golbi-Behmel syndrome
RC402735 R254X254760C>TSimpson-Golbi-Behmel syndrome
RC402736 W296R296886T>ASimpson-Golbi-Behmel syndrome
RC402737 K340X3401018A>TSimpson-Golbi-Behmel syndrome
RC402738 R387X3871159C>TSimpson-Golbi-Behmel syndrome
RC402739 Q471X4711411C>TSimpson-Golbi-Behmel syndrome
RC402740 G556R5561666G>ASimpson-Golbi-Behmel syndrome

 

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