Gene Variant Detail

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Gene SMARCA4
Variant K1439Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions SMARCA4 K1439Q lies within a region of the Smarca4 protein sufficient for interaction with DLX1 (UniProt.org). K1439Q has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

SMARCA4 mutant SMARCA4 K1439Q

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Transcript NM_003072.5
gDNA chr19:g.11041451A>C
cDNA c.4315A>C
Protein p.K1439Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006722846.3 chr19:g.11041355A>C c.4315A>C p.K1439Q RefSeq GRCh38/hg38
NM_001128849.3 chr19:g.11041355A>C c.4315A>C p.K1439Q RefSeq GRCh38/hg38
NM_001128844 chr19:g.11041451A>C c.4315A>C p.K1439Q RefSeq GRCh38/hg38
NM_001128849 chr19:g.11041355A>C c.4315A>C p.K1439Q RefSeq GRCh38/hg38
XM_006722846 chr19:g.11041355A>C c.4315A>C p.K1439Q RefSeq GRCh38/hg38
XM_024451658.1 chr19:g.11041355A>C c.4315A>C p.K1439Q RefSeq GRCh38/hg38
XM_047439244.1 chr19:g.11041451A>C c.4315A>C p.K1439Q RefSeq GRCh38/hg38
XM_024451659.1 chr19:g.11041355A>C c.4315A>C p.K1439Q RefSeq GRCh38/hg38
XM_011528198.2 chr19:g.11041355A>C c.4315A>C p.K1439Q RefSeq GRCh38/hg38
XM_047439243.1 chr19:g.11041355A>C c.4315A>C p.K1439Q RefSeq GRCh38/hg38
XM_006722845.2 chr19:g.11041355A>C c.4315A>C p.K1439Q RefSeq GRCh38/hg38
NM_003072.5 chr19:g.11041451A>C c.4315A>C p.K1439Q RefSeq GRCh38/hg38
XM_024451662.1 chr19:g.11041451A>C c.4315A>C p.K1439Q RefSeq GRCh38/hg38
NM_001128844.1 chr19:g.11041451A>C c.4315A>C p.K1439Q RefSeq GRCh38/hg38
XM_017027160 chr19:g.11041355A>C c.4315A>C p.K1439Q RefSeq GRCh38/hg38
NM_001128844.3 chr19:g.11041451A>C c.4315A>C p.K1439Q RefSeq GRCh38/hg38
NM_003072.3 chr19:g.11041451A>C c.4315A>C p.K1439Q RefSeq GRCh38/hg38
XM_006722845 chr19:g.11041355A>C c.4315A>C p.K1439Q RefSeq GRCh38/hg38
XM_011528198 chr19:g.11041355A>C c.4315A>C p.K1439Q RefSeq GRCh38/hg38
XM_006722846.2 chr19:g.11041355A>C c.4315A>C p.K1439Q RefSeq GRCh38/hg38
NM_001387283.1 chr19:g.11041355A>C c.4315A>C p.K1439Q RefSeq GRCh38/hg38
NM_001128849.1 chr19:g.11041355A>C c.4315A>C p.K1439Q RefSeq GRCh38/hg38
NM_003072 chr19:g.11041451A>C c.4315A>C p.K1439Q RefSeq GRCh38/hg38
XM_011528198.1 chr19:g.11041355A>C c.4315A>C p.K1439Q RefSeq GRCh38/hg38
XM_024451658.2 chr19:g.11041355A>C c.4315A>C p.K1439Q RefSeq GRCh38/hg38
XM_017027163 chr19:g.11041451A>C c.4315A>C p.K1439Q 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