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Gene SMARCE1
Variant K271fs
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions SMARCE1 K271fs results in a change in the amino acid sequence of the Smarce1 protein beginning at aa 271 of 411, likely resulting in premature truncation of the functional protein (UniProt.org). K271fs has been identified in sequencing studies (PMID: 33319313, PMID: 32994724), but has not been biochemically characterized and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023).
Associated Drug Resistance
Category Variants Paths

SMARCE1 mutant SMARCE1 K271fs

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Transcript NM_003079.5
gDNA chr17:g.(40631597_40631598)
cDNA c.(811_810)
Protein p.K271fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_003079.4 chr17:g.(40631597_40631598) c.(811_810) p.K271fs RefSeq GRCh38/hg38
NM_003079.5 chr17:g.(40631597_40631598) c.(811_810) p.K271fs RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References