Gene Variant Detail

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Gene TP53
Variant R209fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 R209fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 209 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). R209fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of R209 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon6 TP53 R209fs

TP53 mutant TP53 inact mut TP53 R209fs

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Transcript NM_000546.6
gDNA chr17:g.(7674906_7674907)
cDNA c.(625_624)
Protein p.R209fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126113 chr17:g.(7674906_7674907) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_000546 chr17:g.(7674906_7674907) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001276760.3 chr17:g.(7674221_7674222) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001126118.2 chr17:g.(7674221_7674222) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001407263.1 chr17:g.(7674221_7674222) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001407267.1 chr17:g.(7674221_7674222) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.(7674906_7674907) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001126114 chr17:g.(7674906_7674907) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001276695.1 chr17:g.(7674221_7674222) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001276696.1 chr17:g.(7674221_7674222) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001407269.1 chr17:g.(7674221_7674222) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001407265.1 chr17:g.(7674221_7674222) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001126118.1 chr17:g.(7674221_7674222) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.(7674906_7674907) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001276696 chr17:g.(7674221_7674222) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.(7674906_7674907) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001126118 chr17:g.(7674221_7674222) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001276761.1 chr17:g.(7674221_7674222) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_000546.5 chr17:g.(7674906_7674907) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001276761 chr17:g.(7674221_7674222) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.(7674906_7674907) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.(7674906_7674907) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001276760.1 chr17:g.(7674221_7674222) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001407271.1 chr17:g.(7674221_7674222) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.(7674906_7674907) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.(7674906_7674907) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.(7674906_7674907) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_000546.6 chr17:g.(7674906_7674907) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001126112 chr17:g.(7674906_7674907) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.(7674906_7674907) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001276760 chr17:g.(7674221_7674222) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.(7674906_7674907) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001276761.3 chr17:g.(7674221_7674222) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001276695 chr17:g.(7674221_7674222) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001276696.3 chr17:g.(7674221_7674222) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001276695.3 chr17:g.(7674221_7674222) c.(625_624) p.R209fs RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.(7674906_7674907) c.(625_624) p.R209fs RefSeq GRCh38/hg38

Filtering

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  • 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