Gene Variant Detail

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Gene KIT
Variant L416fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions KIT L416fs results in a change in the amino acid sequence of the Kit protein beginning at aa 416 of 976, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), L416fs is predicted to lead to a loss of Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon8 KIT L416fs

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Transcript NM_000222.3
gDNA chr4:g.(54723597_54723598)
cDNA c.(1246_1245)
Protein p.L416fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008178.1 chr4:g.(54723597_54723598) c.(1246_1245) p.L416fs RefSeq GRCh38/hg38
NM_000222 chr4:g.(54723597_54723598) c.(1246_1245) p.L416fs RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.(54723597_54723598) c.(1246_1245) p.L416fs RefSeq GRCh38/hg38
NM_001093772 chr4:g.(54723597_54723598) c.(1246_1245) p.L416fs RefSeq GRCh38/hg38
XM_017008180 chr4:g.(54723597_54723598) c.(1246_1245) p.L416fs RefSeq GRCh38/hg38
NM_000222.2 chr4:g.(54723597_54723598) c.(1246_1245) p.L416fs RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.(54723597_54723598) c.(1246_1245) p.L416fs RefSeq GRCh38/hg38
XM_017008178 chr4:g.(54723597_54723598) c.(1246_1245) p.L416fs RefSeq GRCh38/hg38
NM_000222.3 chr4:g.(54723597_54723598) c.(1246_1245) p.L416fs RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.(54723597_54723598) c.(1246_1245) p.L416fs RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.(54723597_54723598) c.(1246_1245) p.L416fs RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.(54723597_54723598) c.(1246_1245) p.L416fs RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries