PALB2 R1086*
Gene Variant Detail

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Gene PALB2
Variant R1086*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions PALB2 R1086* indicates a premature truncation of the Palb2 protein at amino acid 1086 of 1186 (UniProt.org). R1086* results in impaired homologous recombination in cultured cells (PMID: 33169439), and therefore, is predicted to lead to a loss of Palb2 protein function.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 R1086*

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Transcript NM_024675.4
gDNA chr16:g.23607958G>A
cDNA c.3256C>T
Protein p.R1086*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_024675.3 chr16:g.23607958G>A c.3256C>T p.R1086* RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23607958G>A c.3256C>T p.R1086* 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References