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Gene RB1
Variant I348V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions RB1 I348V does not lie within any known functional domains of the Rb1 protein (UniProt.org). I348V has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
Associated Drug Resistance
Category Variants Paths

RB1 mutant RB1 I348V

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Transcript NM_000321.3
gDNA chr13:g.48367596A>G
cDNA c.1042A>G
Protein p.I348V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000321 chr13:g.48367596A>G c.1042A>G p.I348V RefSeq GRCh38/hg38
NM_000321.2 chr13:g.48367596A>G c.1042A>G p.I348V RefSeq GRCh38/hg38
NM_001407166.1 chr13:g.48367596A>G c.1042A>G p.I348V RefSeq GRCh38/hg38
NM_001407165.1 chr13:g.48367596A>G c.1042A>G p.I348V RefSeq GRCh38/hg38
NM_000321.3 chr13:g.48367596A>G c.1042A>G p.I348V 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