PALB2 Q775*
Gene Variant Detail

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Gene PALB2
Variant Q775*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions PALB2 Q775* results in a premature truncation of the Palb2 protein at amino acid 775 of 1186 (UniProt.org). Q775* retains DNA binding in culture (PMID: 24485656), but confers a loss of function to the Palb2 protein as demonstrated by loss of binding with Poln, decreased enhancement of Poln DNA synthesis and Poln foci formation (PMID: 24485656), and decreased Brca2 and Rad51 binding and reduced DNA damage response in cultured cells (PMID: 28158555).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 Q775*

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Transcript NM_024675.4
gDNA chr16:g.23629831G>A
cDNA c.2323C>T
Protein p.Q775*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023672 chr16:g.23629831G>A c.2323C>T p.Q775* RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23629831G>A c.2323C>T p.Q775* RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23629831G>A c.2323C>T p.Q775* RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23629831G>A c.2323C>T p.Q775* RefSeq GRCh38/hg38
XM_017023673 chr16:g.23629831G>A c.2323C>T p.Q775* RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23629831G>A c.2323C>T p.Q775* RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23629831G>A c.2323C>T p.Q775* RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23629831G>A c.2323C>T p.Q775* RefSeq GRCh38/hg38
NM_001407296.1 chr16:g.23629771G>A c.2323C>T p.Q775* RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23629831G>A c.2323C>T p.Q775* RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23629831G>A c.2323C>T p.Q775* RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23629831G>A c.2323C>T p.Q775* RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23629831G>A c.2323C>T p.Q775* RefSeq GRCh38/hg38
NM_024675 chr16:g.23629831G>A c.2323C>T p.Q775* RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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