PALB2 L21P
Gene Variant Detail

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Gene PALB2
Variant L21P
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PALB2 L21P lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). L21P results in Brca2 and Rad51 binding similar to wild-type Palb2 but fails to bind Brca1 and results in deficient Rad51 and Palb2 nuclear foci assembly (PMID: 19584259) and decreased homology-directed DNA repair in cultured cells (PMID: 19584259, PMID: 33964450).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 L21P

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Transcript NM_024675.4
gDNA chr16:g.23638116_23638117delTTinsCC
cDNA c.61_62delTTinsCC
Protein p.L21P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407298.1 chr16:g.23638116_23638117delTTinsCC c.61_62delTTinsCC p.L21P RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23638116_23638117delTTinsCC c.61_62delTTinsCC p.L21P RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23638116_23638117delTTinsCC c.61_62delTTinsCC p.L21P RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23638116_23638117delTTinsCC c.61_62delTTinsCC p.L21P RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23638116_23638117delTTinsCC c.61_62delTTinsCC p.L21P RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23638116_23638117delTTinsCC c.61_62delTTinsCC p.L21P RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23638116_23638117delTTinsCC c.61_62delTTinsCC p.L21P RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23638116_23638117delTTinsCC c.61_62delTTinsCC p.L21P RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23638116_23638117delTTinsCC c.61_62delTTinsCC p.L21P RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23638116_23638117delTTinsCC c.61_62delTTinsCC p.L21P RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries