Gene Variant Detail

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Gene SMARCA4
Variant R1329fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions SMARCA4 R1329fs results in a change in the amino acid sequence of the Smarca4 protein beginning at aa 1329 of 1647, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the Bromo domain (UniProt.org), R1329fs is predicted to lead to a loss of Smarca4 protein function.
Associated Drug Resistance
Category Variants Paths

SMARCA4 mutant SMARCA4 inact mut SMARCA4 R1329fs

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Transcript NM_003072.5
gDNA chr19:g.(11034946_11034947)
cDNA c.(3985_3984)
Protein p.R1329fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001128844 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38
NM_003072 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38
XM_006722846.2 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38
XM_024451660.1 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38
XM_017027160 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38
XM_024451658.1 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38
XM_011528198 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38
NM_001128849 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38
XM_006722845.2 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38
XM_006722845 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38
NM_001128849.3 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38
XM_047439244.1 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38
XM_024451662.1 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38
XM_024451658.2 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38
XM_006722846 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38
XM_017027163 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38
NM_003072.3 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38
XM_011528198.1 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38
XM_006722846.3 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38
NM_001128844.1 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38
XM_011528198.2 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38
NM_001128844.3 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38
XM_017027161 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38
NM_003072.5 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38
XM_047439243.1 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38
XM_024451659.1 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38
NM_001387283.1 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38
NM_001128849.1 chr19:g.(11034946_11034947) c.(3985_3984) p.R1329fs RefSeq GRCh38/hg38

Filtering

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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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  • 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