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Gene SMARCA4
Variant R381Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions SMARCA4 R381Q does not lie within any known functional domains of the Smarca4 protein (UniProt.org). R381Q has been identified in sequencing studies (PMID: 22810696, PMID: 29107334, PMID: 35135110), but has not been biochemically 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 R381Q

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Transcript NM_003072.5
gDNA chr19:g.10989340G>A
cDNA c.1142G>A
Protein p.R381Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001128844 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
NM_003072.3 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
NM_001128847.4 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
NM_001128847 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
NM_001128848.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
NM_001128844.3 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
NM_001374457.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_024451661.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
NM_001128845.2 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_024451665.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_024451659.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_024451663.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_024451658.2 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_017027165 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_024451660.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_024451661.2 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_047439249.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_047439243.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_017027161 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
NM_001128845.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_047439246.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
NM_003072 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_024451666.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_017027163 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_011528198.2 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
NM_001128849.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_047439244.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_017027160 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_011528198.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_024451658.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
NM_001128846.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
NM_001128847.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
NM_001387283.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_024451663.2 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_047439250.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
NM_001128849 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_024451664.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
NM_001411150.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_006722846 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
NM_001128846.2 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_047439248.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_006722845.2 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
NM_001128844.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_024451662.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
NM_001128849.3 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_017027167 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
NM_003072.5 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_017027164 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_011528198 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_024451667.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
NM_001128846 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_024451667.2 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
NM_001128848.2 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_006722845 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
NM_001128848 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_047439251.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_047439247.1 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_017027168 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_017027162 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
NM_001128845 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_006722846.3 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_006722846.2 chr19:g.10989340G>A c.1142G>A p.R381Q RefSeq GRCh38/hg38
XM_017027166 chr19:g.10989340G>A c.1142G>A p.R381Q 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
SMARCA4 mutant lung non-small cell carcinoma predicted - sensitive Tozasertib Preclinical - Cell culture Actionable In a preclinical study, a non-small cell lung cancer cell line harboring a SMARCA4 mutation demonstrated sensitivity to Tozasertib (VX-680) in culture (Cancer Res July 15 2016 (76) (14 Supplement) LB-318). detail...
SMARCA4 mutant esophageal cancer predicted - sensitive PRT3789 Case Reports/Case Series Actionable In a Phase I trial, PRT3789 treatment was well tolerated and resulted in partial responses, tumor shrinkage, and prolonged stable disease in patients with advanced esophageal cancer (N=2) or non-small cell lung cancer (N=18) harboring SMARCA4 mutations (Ann Oncol (2024) 35 (suppl_2): S483-S484; NCT05639751). detail...
SMARCA4 mutant mantle cell lymphoma predicted - resistant Ibrutinib + Venetoclax Phase II Actionable In a Phase II trial (AIM), distinct molecular profiles were identified in mantle cell lymphoma patients responded to Imbruvica (ibrutinib) and Venclexta (venetoclax) combination therapy compared to those did not respond, with all patients harboring mutations in NSD2 (n=4), UBR5 (n=3), KMT2D (n=3), and 12 of 13 patients harboring mutations in ATM responded to the therapy, while SMARCA4 (n=4), CCND1 (n=2), and NOTCH1 (n=3) alterations were exclusively observed in nonresponders (PMID: 30455436; NCT02471391). 30455436
SMARCA4 mutant small-cell carcinoma of the ovary of hypercalcemic type sensitive Ponatinib Preclinical - Cell line xenograft Actionable In a preclinical study, Iclusig (ponatinib) treatment of small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) cell lines and xenografts with mutant SMARCA4 resulted in decreased cell viability and tumor volume (PMID: 29440177). 29440177
SMARCA4 mutant lung non-small cell carcinoma predicted - sensitive PRT3789 Phase I Actionable In a Phase I trial, PRT3789 treatment was well tolerated and resulted in partial responses, tumor shrinkage, and prolonged stable disease in patients with advanced esophageal cancer (N=2) or non-small cell lung cancer (N=18) harboring SMARCA4 mutations (Ann Oncol (2024) 35 (suppl_2): S483-S484; NCT05639751). detail...