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@jax.org

Gene TP53
Variant G279_R282del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions TP53 G279_R282del results in the deletion of four amino acids in the DNA-binding domain of the Tp53 protein from amino acids 279 to 282 (UniProt.org). G279_R282del has been identified in the scientific literature (PMID: 31837433), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2024).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon8 TP53 G279_R282del

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_000546.6
gDNA chr17:g.7673774_7673785del12
cDNA c.835_846del12
Protein p.G279_R282delGRDR
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126112.3 chr17:g.7673774_7673785del12 c.835_846del12 p.G279_R282delGRDR RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7673774_7673785del12 c.835_846del12 p.G279_R282delGRDR RefSeq GRCh38/hg38
NM_001407263.1 chr17:g.7673565_7673576del12 c.838_849del12 p.K280_P283delKKKP RefSeq GRCh38/hg38
NM_001126112 chr17:g.7673774_7673785del12 c.835_846del12 p.G279_R282del RefSeq GRCh38/hg38
NM_000546 chr17:g.7673774_7673785del12 c.835_846del12 p.G279_R282del RefSeq GRCh38/hg38
NM_001126118.2 chr17:g.7673565_7673576del12 c.838_849del12 p.K280_P283delKKKP RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7673774_7673785del12 c.835_846del12 p.G279_R282delGRDR RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7673774_7673785del12 c.835_846del12 p.G279_R282delGRDR RefSeq GRCh38/hg38
NM_001407265.1 chr17:g.7673565_7673576del12 c.838_849del12 p.K280_P283delKKKP RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7673774_7673785del12 c.835_846del12 p.G279_R282delGRDR RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7673774_7673785del12 c.835_846del12 p.G279_R282delGRDR RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7673774_7673785del12 c.835_846del12 p.G279_R282del RefSeq GRCh38/hg38
NM_001407269.1 chr17:g.7673565_7673576del12 c.838_849del12 p.K280_P283delKKKP RefSeq GRCh38/hg38
NM_001276760.3 chr17:g.7673565_7673576del12 c.838_849del12 p.K280_P283delKKKP RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7673774_7673785del12 c.835_846del12 p.G279_R282del RefSeq GRCh38/hg38
NM_001126113 chr17:g.7673774_7673785del12 c.835_846del12 p.G279_R282del RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7673774_7673785del12 c.835_846del12 p.G279_R282del RefSeq GRCh38/hg38
NM_001407271.1 chr17:g.7673565_7673576del12 c.838_849del12 p.K280_P283delKKKP RefSeq GRCh38/hg38
NM_001276695.3 chr17:g.7673565_7673576del12 c.838_849del12 p.K280_P283delKKKP RefSeq GRCh38/hg38
NM_001126114 chr17:g.7673774_7673785del12 c.835_846del12 p.G279_R282del RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7673774_7673785del12 c.835_846del12 p.G279_R282del RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7673774_7673785del12 c.835_846del12 p.G279_R282delGRDR RefSeq GRCh38/hg38
NM_001276761.3 chr17:g.7673565_7673576del12 c.838_849del12 p.K280_P283delKKKP RefSeq GRCh38/hg38
NM_001276696.3 chr17:g.7673565_7673576del12 c.838_849del12 p.K280_P283delKKKP RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7673774_7673785del12 c.835_846del12 p.G279_R282delGRDR RefSeq GRCh38/hg38
NM_001407267.1 chr17:g.7673565_7673576del12 c.838_849del12 p.K280_P283delKKKP RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7673774_7673785del12 c.835_846del12 p.G279_R282delGRDR 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