PALB2 L24S
Gene Variant Detail

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Gene PALB2
Variant L24S
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PALB2 L24S lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). L24S confers a loss of function to the Palb2 protein as demonstrated by decreased Brca1 binding and Rad51 foci formation (PMID: 31636395), and impaired homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells (PMID: 31636395, PMID: 31757951, PMID: 33964450).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 L24S

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Transcript NM_024675.4
gDNA chr16:g.23638107A>G
cDNA c.71T>C
Protein p.L24S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407301.1 chr16:g.23638107A>G c.71T>C p.L24S RefSeq GRCh38/hg38
XM_017023672 chr16:g.23638107A>G c.71T>C p.L24S RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23638107A>G c.71T>C p.L24S RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23638107A>G c.71T>C p.L24S RefSeq GRCh38/hg38
XM_017023673 chr16:g.23638107A>G c.71T>C p.L24S RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23638107A>G c.71T>C p.L24S RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23638107A>G c.71T>C p.L24S RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23638107A>G c.71T>C p.L24S RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23638107A>G c.71T>C p.L24S RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23638107A>G c.71T>C p.L24S RefSeq GRCh38/hg38
NM_024675 chr16:g.23638107A>G c.71T>C p.L24S RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23638107A>G c.71T>C p.L24S RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23638107A>G c.71T>C p.L24S RefSeq GRCh38/hg38

Filtering

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

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries