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Gene SMARCA4
Variant Q1187R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions SMARCA4 Q1187R lies within the C-terminal helicase domain of the Smarca4 protein (UniProt.org). Q1187R has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2024).
Associated Drug Resistance
Category Variants Paths

SMARCA4 mutant SMARCA4 Q1187R

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Transcript NM_003072.5
gDNA chr19:g.11033303A>G
cDNA c.3560A>G
Protein p.Q1187R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024451667.2 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
XM_024451658.2 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
XM_024451663.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
XM_047439243.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
XM_006722845.2 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
NM_001128845.2 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
XM_006722846.2 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
NM_003072.5 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
NM_001411150.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
XM_024451662.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
NM_001128848.2 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
NM_001128846.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
NM_001374457.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
XM_047439247.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
NM_001387283.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
NM_001128845.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
XM_024451659.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
XM_047439250.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
NM_003072.3 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
XM_024451667.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
XM_024451658.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
XM_047439248.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
XM_006722846.3 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
XM_047439251.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
NM_001128847.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
NM_001128844.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
XM_011528198.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
NM_001128849.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
NM_001128849.3 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
XM_047439249.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
XM_024451666.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
XM_024451661.2 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
NM_001128848.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
NM_001128847.4 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
XM_047439246.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
NM_001128846.2 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
XM_024451660.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
XM_024451664.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
NM_001128844.3 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
XM_047439244.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
XM_024451665.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
XM_024451661.1 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
XM_011528198.2 chr19:g.11033303A>G c.3560A>G p.Q1187R RefSeq GRCh38/hg38
XM_024451663.2 chr19:g.11033303A>G c.3560A>G p.Q1187R 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