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 RB1
Variant Q257R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions RB1 Q257R does not lie within any known functional domains of the Rb1 protein (UniProt.org). Q257R has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
Associated Drug Resistance
Category Variants Paths

RB1 mutant RB1 Q257R

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_000321.3
gDNA chr13:g.48362866A>G
cDNA c.770A>G
Protein p.Q257R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000321.2 chr13:g.48362866A>G c.770A>G p.Q257R RefSeq GRCh38/hg38
XM_011535171.2 chr13:g.48367585A>G c.770A>G p.Q257R RefSeq GRCh38/hg38
NM_000321.3 chr13:g.48362866A>G c.770A>G p.Q257R RefSeq GRCh38/hg38
NM_001407165.1 chr13:g.48362866A>G c.770A>G p.Q257R RefSeq GRCh38/hg38
NM_001407166.1 chr13:g.48362866A>G c.770A>G p.Q257R RefSeq GRCh38/hg38
NM_000321 chr13:g.48362866A>G c.770A>G p.Q257R RefSeq GRCh38/hg38
XM_011535171 chr13:g.48367585A>G c.770A>G p.Q257R 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
RB1 mutant estrogen-receptor positive breast cancer predicted - resistant Palbociclib Phase III Actionable In a Phase III trial (PALOMA-3), acquired RB1 mutations were identified in patents with ER-positive, ERBB2 (HER2)-negative breast cancer at the end of treatment in the Faslodex (fulvestrant) plus Ibrance (palbociclib) but not the Faslodex (fulvestrant) plus placebo arm, suggesting a role in conferring resistance to Ibrance (palbociclib) (PMID: 30206110; NCT01942135). 30206110
RB1 mutant osteosarcoma sensitive VCN-01 Preclinical - Cell line xenograft Actionable In a preclinical study, VCN-01 decreased viability of a human RB1-mutant primary osteosarcoma cell line in culture, and inhibited tumor growth and decreased lung metastases in xenograft models (PMID: 26603261). 26603261