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 R621C
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions RB1 R621C lies within the spacer region of the Rb1 protein (UniProt.org). R621C results in nuclear localization similar to wild-type Rb1 but decreased ability to induce apoptosis in cultured cells (PMID: 20594292), and therefore, is predicted to lead to a loss of Rb1 protein function.
Associated Drug Resistance
Category Variants Paths

RB1 mutant RB1 inact mut RB1 R621C

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.48456250C>T
cDNA c.1861C>T
Protein p.R621C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000321 chr13:g.48456250C>T c.1861C>T p.R621C RefSeq GRCh38/hg38
NM_001407165.1 chr13:g.48456250C>T c.1861C>T p.R621C RefSeq GRCh38/hg38
NM_000321.2 chr13:g.48456250C>T c.1861C>T p.R621C RefSeq GRCh38/hg38
NM_000321.3 chr13:g.48456250C>T c.1861C>T p.R621C 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries