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 V654fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions RB1 V654fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 654 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), V654fs is predicted to lead to a loss Rb1 protein function.
Associated Drug Resistance
Category Variants Paths

RB1 mutant RB1 inact mut RB1 V654fs

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.(48456348_48456349)
cDNA c.(1960_1959)
Protein p.V654fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000321.3 chr13:g.(48456348_48456349) c.(1960_1959) p.V654fs RefSeq GRCh38/hg38
NM_001407165.1 chr13:g.(48456348_48456349) c.(1960_1959) p.V654fs RefSeq GRCh38/hg38
NM_000321.2 chr13:g.(48456348_48456349) c.(1960_1959) p.V654fs RefSeq GRCh38/hg38
NM_000321 chr13:g.(48456348_48456349) c.(1960_1959) p.V654fs 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