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 V218del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions TP53 V218del results in the deletion of one amino acid within the DNA-binding domain of the Tp53 protein (PMID: 21760703). V218del has been identified in the scientific literature (PMID: 31892709), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Feb 2024).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon6 TP53 V218del

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.7674883_7674885delCAC
cDNA c.652_654delGTG
Protein p.V218delV
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126115.2 chr17:g.7670659_7670661delGAG c.652_654delCTC p.L218delL RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7674883_7674885delCAC c.652_654delGTG p.V218delV RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7674883_7674885delCAC c.652_654delGTG p.V218delV RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7674883_7674885delCAC c.652_654delGTG p.V218delV RefSeq GRCh38/hg38
NM_001126118.2 chr17:g.7674192_7674194delCAG c.652_654delCTG p.L218delL RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7674883_7674885delCAC c.652_654delGTG p.V218delV RefSeq GRCh38/hg38
NM_001407271.1 chr17:g.7674192_7674194delCAG c.652_654delCTG p.L218delL RefSeq GRCh38/hg38
NM_001276697.3 chr17:g.7669660_7669662delGGT c.652_654delACC p.T218delT RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7674883_7674885delCAC c.652_654delGTG p.V218del RefSeq GRCh38/hg38
NM_001407263.1 chr17:g.7674192_7674194delCAG c.652_654delCTG p.L218delL RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7674883_7674885delCAC c.652_654delGTG p.V218delV RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7674883_7674885delCAC c.652_654delGTG p.V218delV RefSeq GRCh38/hg38
NM_001407269.1 chr17:g.7674192_7674194delCAG c.652_654delCTG p.L218delL RefSeq GRCh38/hg38
NM_001276695.3 chr17:g.7674192_7674194delCAG c.652_654delCTG p.L218delL RefSeq GRCh38/hg38
NM_001276696.3 chr17:g.7674192_7674194delCAG c.652_654delCTG p.L218delL RefSeq GRCh38/hg38
NM_001407265.1 chr17:g.7674192_7674194delCAG c.652_654delCTG p.L218delL RefSeq GRCh38/hg38
NM_001276761.3 chr17:g.7674192_7674194delCAG c.652_654delCTG p.L218delL RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7674883_7674885delCAC c.652_654delGTG p.V218delV RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7674883_7674885delCAC c.652_654delGTG p.V218delV RefSeq GRCh38/hg38
NM_001407267.1 chr17:g.7674192_7674194delCAG c.652_654delCTG p.L218delL RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7674883_7674885delCAC c.652_654delGTG p.V218delV RefSeq GRCh38/hg38
NM_001276760.3 chr17:g.7674192_7674194delCAG c.652_654delCTG p.L218delL 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