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Gene SMARCA4
Variant R1515H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions SMARCA4 R1515H lies within the Bromo domain of the Smarca4 protein (UniProt.org). R1515H has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2024).
Associated Drug Resistance
Category Variants Paths

SMARCA4 mutant SMARCA4 R1515H

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Transcript NM_003072.5
gDNA chr19:g.11058798G>A
cDNA c.4544G>A
Protein p.R1515H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001128844.1 chr19:g.11058798G>A c.4544G>A p.R1515H RefSeq GRCh38/hg38
XM_047439244.1 chr19:g.11058798G>A c.4544G>A p.R1515H RefSeq GRCh38/hg38
NM_003072 chr19:g.11058798G>A c.4544G>A p.R1515H RefSeq GRCh38/hg38
NM_003072.3 chr19:g.11058798G>A c.4544G>A p.R1515H RefSeq GRCh38/hg38
NM_001128844.3 chr19:g.11058798G>A c.4544G>A p.R1515H RefSeq GRCh38/hg38
NM_003072.5 chr19:g.11058798G>A c.4544G>A p.R1515H RefSeq GRCh38/hg38
NM_001128844 chr19:g.11058798G>A c.4544G>A p.R1515H 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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