Gene Variant Detail

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Gene SMARCA4
Variant I542fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions SMARCA4 I542fs results in a change in the amino acid sequence of the Smarca4 protein beginning at aa 542 of 1647, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the Bromo domain (UniProt.org), I542fs is predicted to lead to a loss of Smarca4 protein function.
Associated Drug Resistance
Category Variants Paths

SMARCA4 mutant SMARCA4 inact mut SMARCA4 I542fs

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Transcript NM_003072.5
gDNA chr19:g.(10996242_10996243)
cDNA c.(1624_1623)
Protein p.I542fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047439249.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_047439246.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_024451658.2 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_024451666.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_017027167 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_024451664.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
NM_001128847.4 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
NM_001128848.2 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_011528198 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_017027162 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_017027168 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_017027160 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_017027163 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_017027164 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_024451660.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
NM_001128849.3 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
NM_001128848 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_006722846.3 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
NM_001128844.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_006722845.2 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_024451658.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
NM_001128849.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
NM_001128845.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_006722846.2 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
NM_001128845.2 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
NM_001128848.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
NM_001128846 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
NM_001128847.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_024451667.2 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
NM_001128849 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_006722846 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
NM_003072.3 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
NM_001128846.2 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
NM_003072 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_047439243.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_024451661.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_024451659.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_017027166 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_024451663.2 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
NM_001387283.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_024451665.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_047439248.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_047439251.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_011528198.2 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
NM_001128845 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_024451667.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_017027165 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_047439250.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_047439244.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_011528198.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
NM_001374457.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_024451662.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_047439247.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
NM_001128844 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
NM_001128847 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
NM_001128844.3 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_017027161 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_006722845 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
NM_001128846.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
NM_001411150.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_024451663.1 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
XM_024451661.2 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs RefSeq GRCh38/hg38
NM_003072.5 chr19:g.(10996242_10996243) c.(1624_1623) p.I542fs 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 Protein Effect Treatment Approaches
SMARCA4 I542fs loss of function - predicted