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Gene SMARCB1
Variant K364del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions SMARCB1 K364del results in the deletion of an amino acid of the Smarcb1 protein at amino acid 364 (UniProt.org). K364del results in decreased histone remodeling activity in cultured cells (PMID: 34437148), but has not been fully biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

SMARCB1 mutant SMARCB1 K364del

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Transcript NM_003073.5
gDNA chr22:g.23833676_23833678delAGA
cDNA c.1091_1093delAGA
Protein p.K364delK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001362877.2 chr22:g.23833622_23833624delCGG c.1091_1093delCGG p.A364delA RefSeq GRCh38/hg38
NM_001317946.2 chr22:g.23833648_23833650delACT c.1090_1092delACT p.T364delT RefSeq GRCh38/hg38
NM_003073 chr22:g.23833676_23833678delAGA c.1091_1093delAGA p.K364del RefSeq GRCh38/hg38
NM_003073.4 chr22:g.23833676_23833678delAGA c.1091_1093delAGA p.K364del RefSeq GRCh38/hg38
NM_003073.5 chr22:g.23833676_23833678delAGA c.1091_1093delAGA p.K364delK RefSeq GRCh38/hg38
NM_001007468.3 chr22:g.23833702_23834141del440 c.1090_1092del440 p.R365delR RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References