PALB2 L35P
Gene Variant Detail

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Gene PALB2
Variant L35P
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PALB2 L35P lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). L35P confers a loss of function to the Palb2 protein as demonstrated by a loss of Brca1 binding, Rad51 foci formation, and homology-directed DNA repair activity in cultured cells, and failure to rescue PARP inhibitor sensitivity in PALB2-null cells (PMID: 28319063, PMID: 31586400, PMID: 31757951).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 L35P

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Transcript NM_024675.4
gDNA chr16:g.23638074A>G
cDNA c.104T>C
Protein p.L35P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407314.1 chr16:g.23629220_23629221delTTinsCC c.103_104delTTinsCC p.L35P RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23638074A>G c.104T>C p.L35P RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23638074A>G c.104T>C p.L35P RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23638074A>G c.104T>C p.L35P RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23638074A>G c.104T>C p.L35P RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23638074A>G c.104T>C p.L35P RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23638074A>G c.104T>C p.L35P RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23638074A>G c.104T>C p.L35P RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23638074A>G c.104T>C p.L35P RefSeq GRCh38/hg38
XM_017023672 chr16:g.23638074A>G c.104T>C p.L35P RefSeq GRCh38/hg38
XM_017023673 chr16:g.23638074A>G c.104T>C p.L35P RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23638074A>G c.104T>C p.L35P RefSeq GRCh38/hg38
NM_024675 chr16:g.23638074A>G c.104T>C p.L35P RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23638074A>G c.104T>C p.L35P RefSeq GRCh38/hg38

Filtering

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  • 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