PALB2 R170Ifs*14
Gene Variant Detail

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Gene PALB2
Variant R170Ifs*14
Impact List frameshift
Protein Effect loss of function
Gene Variant Descriptions PALB2 R170Ifs*14 indicates a shift in the reading frame starting at amino acid 170 and terminating 14 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). R170Ifs*14 confers a loss of function to the Palb2 protein as demonstrated by decreased recruitment to DNA damage sites, reduced Brca2 binding, and loss of Rad51 activation in cultured cells (PMID: 28158555).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 R170fs PALB2 R170Ifs*14

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Transcript NM_024675.4
gDNA chr16:g.23636037_23636038delCT
cDNA c.509_510delGA
Protein p.R170Ifs*14
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407299.1 chr16:g.23636037_23636038delCT c.509_510delGA p.R170Ifs*14 RefSeq GRCh38/hg38
XM_017023672 chr16:g.23636037_23636038delCT c.509_510delGA p.R170Ifs*14 RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23636037_23636038delCT c.509_510delGA p.R170Ifs*14 RefSeq GRCh38/hg38
XM_017023673 chr16:g.23636037_23636038delCT c.509_510delGA p.R170Ifs*14 RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23636037_23636038delCT c.509_510delGA p.R170Ifs*14 RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23636037_23636038delCT c.509_510delGA p.R170Ifs*14 RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23636037_23636038delCT c.509_510delGA p.R170Ifs*14 RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23636037_23636038delCT c.509_510delGA p.R170Ifs*14 RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23636037_23636038delCT c.509_510delGA p.R170Ifs*14 RefSeq GRCh38/hg38
NM_024675 chr16:g.23636037_23636038delCT c.509_510delGA p.R170Ifs*14 RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23636037_23636038delCT c.509_510delGA p.R170Ifs*14 RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23636037_23636038delCT c.509_510delGA p.R170Ifs*14 RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23636037_23636038delCT c.509_510delGA p.R170Ifs*14 RefSeq GRCh38/hg38

Filtering

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  • 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

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries