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KIT T417_Y418delinsH - Gene Variant Detail

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Gene KIT
Variant T417_Y418delinsH
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT T417_Y418delinsH results in the deletion of two amino acids in the Ig-like C2-type 5 domain of the Kit protein from amino acids 417 to 418, combined with the insertion of a histidine (H) at the same site (UniProt.org). T417_Y418delinsH has not been characterized, however similar Kit exon 8 mutations are activating (PMID: 16015387, PMID: 20484085), and therefore, is predicted to lead to a gain of Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT T417_Y418delinsH

KIT mutant KIT exon8 KIT T417_Y418delinsH

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Transcript NM_000222.3
gDNA chr4:g.54723601_54723606delinsCAT
cDNA c.1249_1254delinsCAT
Protein p.T417_Y418delinsH
Source Database RefSeq
Genome Build GRCh38/hg38

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