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Gene SMARCE1
Variant P5fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions SMARCE1 P5fs results in a change in the amino acid sequence of the Smarce1 protein beginning at aa 5 of 411, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), P5fs is predicted to lead to a loss of Smarce1 protein function.
Associated Drug Resistance
Category Variants Paths

SMARCE1 mutant SMARCE1 P5fs

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Transcript NM_003079.5
gDNA chr17:g.(40645614_40645615)
cDNA c.(13_12)
Protein p.P5fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_003079.5 chr17:g.(40645614_40645615) c.(13_12) p.P5fs RefSeq GRCh38/hg38
NM_003079.4 chr17:g.(40645614_40645615) c.(13_12) p.P5fs RefSeq GRCh38/hg38

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