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 C712R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions RB1 C712R lies within domain B of the Rb1 protein (UniProt.org). C712R results in a loss of Rb1 protein function as demonstrated by reduced Rb1 phosphorylation and inability to bind E2f1 in in vitro assays, and reduced interaction with large T antigen in an yeast assay (PMID: 10486322).
Associated Drug Resistance
Category Variants Paths

RB1 mutant RB1 inact mut RB1 C712R

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.48463758T>C
cDNA c.2134T>C
Protein p.C712R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000321 chr13:g.48463758T>C c.2134T>C p.C712R RefSeq GRCh38/hg38
NM_000321.2 chr13:g.48463758T>C c.2134T>C p.C712R RefSeq GRCh38/hg38
NM_000321.3 chr13:g.48463758T>C c.2134T>C p.C712R RefSeq GRCh38/hg38
NM_001407165.1 chr13:g.48463758T>C c.2134T>C p.C712R 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