Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene SMARCA4
Variant R1515C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions SMARCA4 R1515C lies within the Bromo domain of the Smarca4 protein (UniProt.org). R1515C has been identified in sequencing studies (PMID: 24916674), but has not been biochemically characterized and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2024).
Associated Drug Resistance
Category Variants Paths

SMARCA4 mutant SMARCA4 R1515C

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.

Transcript NM_003072.5
gDNA chr19:g.11058797C>T
cDNA c.4543C>T
Protein p.R1515C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_003072.3 chr19:g.11058797C>T c.4543C>T p.R1515C RefSeq GRCh38/hg38
XM_047439244.1 chr19:g.11058797C>T c.4543C>T p.R1515C RefSeq GRCh38/hg38
NM_003072 chr19:g.11058797C>T c.4543C>T p.R1515C RefSeq GRCh38/hg38
NM_001128844 chr19:g.11058797C>T c.4543C>T p.R1515C RefSeq GRCh38/hg38
NM_003072.5 chr19:g.11058797C>T c.4543C>T p.R1515C RefSeq GRCh38/hg38
NM_001128844.3 chr19:g.11058797C>T c.4543C>T p.R1515C RefSeq GRCh38/hg38
NM_001128844.1 chr19:g.11058797C>T c.4543C>T p.R1515C 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