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@jax.org

Gene ROS1
Variant D2113N
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions ROS1 D2113N lies within the protein kinase domain of the Ros1 protein (UniProt.org). D2113N results in increased Ros1 activity, phosphorylation of Shp2 and Stat3, and colony formation in culture, and induces tumor formation in a mouse model (PMID: 37587872), and has been demonstrated to enhance resistance to ROS1 tyrosine kinase inhibitors with concurrent ROS1 G2032R in the context of a ROS1 fusion in culture (PMID: 26372962).
Associated Drug Resistance Y
Category Variants Paths

ROS1 mutant ROS1 act mut ROS1 D2113N

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_002944.3
gDNA chr6:g.117310178C>T
cDNA c.6337G>A
Protein p.D2113N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002944.3 chr6:g.117310178C>T c.6337G>A p.D2113N RefSeq GRCh38/hg38
NM_002944.2 chr6:g.117310178C>T c.6337G>A p.D2113N RefSeq GRCh38/hg38
NM_002944 chr6:g.117310178C>T c.6337G>A p.D2113N 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
ROS1 D2113N Advanced Solid Tumor sensitive Crizotinib Preclinical - Cell line xenograft Actionable In a preclinical study, Xalkori (crizotinib) inhibited proliferation of transformed cells expressing ROS1 D2113N in culture and inhibited tumor growth and increased survival in a cell line xenograft model (PMID: 37587872). 37587872
ROS1 D2113N Advanced Solid Tumor sensitive Lorlatinib Preclinical - Cell line xenograft Actionable In a preclinical study, Lorbrena (lorlatinib) inhibited proliferation of transformed cells expressing ROS1 D2113N in culture and inhibited tumor growth and increased survival in a cell line xenograft model (PMID: 37587872). 37587872
ROS1 D2113N Advanced Solid Tumor sensitive NUV-520 Preclinical - Cell culture Actionable In a preclinical study, NUV-520 inhibited proliferation of transformed cells expressing ROS1 D2113N in culture (PMID: 37587872). 37587872
ROS1 D2113N Advanced Solid Tumor sensitive Repotrectinib Preclinical - Cell culture Actionable In a preclinical study, Augtyro (repotrectinib) inhibited proliferation of transformed cells expressing ROS1 D2113N in culture (PMID: 37587872). 37587872
ROS1 D2113N Advanced Solid Tumor sensitive TNO155 Preclinical - Cell culture Actionable In a preclinical study, TNO155 inhibited proliferation of transformed cells expressing ROS1 D2113N in culture (PMID: 37587872). 37587872
ROS1 D2113N Advanced Solid Tumor sensitive RMC-4550 Preclinical - Cell culture Actionable In a preclinical study, RMC-4550 inhibited proliferation of transformed cells expressing ROS1 D2113N in culture (PMID: 37587872). 37587872
ROS1 D2113N Advanced Solid Tumor sensitive Selumetinib Preclinical - Cell culture Actionable In a preclinical study, Koselugo (selumetinib) inhibited proliferation of transformed cells expressing ROS1 D2113N in culture (PMID: 37587872). 37587872