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Gene SMARCA4
Variant S1079L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions SMARCA4 S1079L does not lie within any known functional domains of the Smarca4 protein (UniProt.org). S1079L has been identified in sequencing studies (PMID: 28801450, PMID: 26960398, PMID: 31190001), 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 S1079L

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Transcript NM_003072.5
gDNA chr19:g.11027804C>T
cDNA c.3236C>T
Protein p.S1079L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024451660.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
NM_001128848 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
NM_001128846.2 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_017027165 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_017027166 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_017027167 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
NM_003072.3 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_024451664.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_047439247.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
NM_001374457.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_011528198.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
NM_001411150.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_006722845.2 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
NM_001128847 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
NM_001128846 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_024451667.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_024451659.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_024451658.2 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
NM_001128844.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_047439250.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_024451663.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_024451663.2 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_017027161 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_024451665.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
NM_001128845.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
NM_001128848.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_047439244.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
NM_003072 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_024451658.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_006722846.2 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_006722845 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_017027160 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
NM_001128849.3 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_006722846.3 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_047439248.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_024451661.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_017027163 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
NM_001128847.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_024451666.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_011528198 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_024451662.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
NM_001128844 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_017027168 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
NM_001128849 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_017027164 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_011528198.2 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_006722846 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
NM_001128847.4 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_047439251.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
NM_001128849.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_024451661.2 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
NM_001387283.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_047439243.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_024451667.2 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_047439249.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
NM_001128846.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
NM_001128844.3 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_017027162 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
NM_001128845.2 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
NM_001128848.2 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
NM_001128845 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
XM_047439246.1 chr19:g.11027804C>T c.3236C>T p.S1079L RefSeq GRCh38/hg38
NM_003072.5 chr19:g.11027804C>T c.3236C>T p.S1079L 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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