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Gene SMARCA4
Variant A1468V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions SMARCA4 A1468V does not lie within any known functional domains of the Smarca4 protein (UniProt.org). A1468V has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

SMARCA4 mutant SMARCA4 A1468V

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Transcript NM_003072.5
gDNA chr19:g.11041539C>T
cDNA c.4403C>T
Protein p.A1468V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024451662.1 chr19:g.11041539C>T c.4403C>T p.A1468V RefSeq GRCh38/hg38
NM_003072 chr19:g.11041539C>T c.4403C>T p.A1468V RefSeq GRCh38/hg38
XM_047439244.1 chr19:g.11041539C>T c.4403C>T p.A1468V RefSeq GRCh38/hg38
NM_001128844.1 chr19:g.11041539C>T c.4403C>T p.A1468V RefSeq GRCh38/hg38
NM_003072.3 chr19:g.11041539C>T c.4403C>T p.A1468V RefSeq GRCh38/hg38
XM_017027163 chr19:g.11041539C>T c.4403C>T p.A1468V RefSeq GRCh38/hg38
NM_001128844 chr19:g.11041539C>T c.4403C>T p.A1468V RefSeq GRCh38/hg38
NM_001128844.3 chr19:g.11041539C>T c.4403C>T p.A1468V RefSeq GRCh38/hg38
NM_003072.5 chr19:g.11041539C>T c.4403C>T p.A1468V RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References