Gene Variant Detail

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Gene PTEN
Variant G251_D252del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions PTEN G251_D252del results in the deletion of two amino acids in the C2 tensin-type domain of the Pten protein from amino acids 251 to 252 (UniProt.org). G251_D252del has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2023).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN G251_D252del

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Transcript NM_000314.8
gDNA chr10:g.87957969_87957974delGGTGAT
cDNA c.751_756delGGTGAT
Protein p.G251_D252delGD
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001304717.2 chr10:g.87931069_87931074delCCGCCA c.752_757delCCGCCA p.T251_A252delTA RefSeq GRCh38/hg38
NM_001304717.5 chr10:g.87931069_87931074delCCGCCA c.752_757delCCGCCA p.T251_A252delTA RefSeq GRCh38/hg38
NM_000314 chr10:g.87957969_87957974delGGTGAT c.751_756delGGTGAT p.G251_D252delGD RefSeq GRCh38/hg38
NM_001304717 chr10:g.87931069_87931074delCCGCCA c.752_757delCCGCCA p.T251_A252delTA RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87957969_87957974delGGTGAT c.751_756delGGTGAT p.G251_D252delGD RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87957969_87957974delGGTGAT c.751_756delGGTGAT p.G251_D252del 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
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Molecular Profile Protein Effect Treatment Approaches
PTEN G251_D252del unknown