PALB2 L17P
Gene Variant Detail

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Gene PALB2
Variant L17P
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions PALB2 L17P lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). L17P results in decreased homology-directed DNA repair activity in cultured cells (PMID: 33964450), and therefore, is predicted to lead to a loss of Palb2 protein function.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 L17P

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Transcript NM_024675.4
gDNA chr16:g.23638128_23638129delTTinsCC
cDNA c.49_50delTTinsCC
Protein p.L17P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407299.1 chr16:g.23638128_23638129delTTinsCC c.49_50delTTinsCC p.L17P RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23638128_23638129delTTinsCC c.49_50delTTinsCC p.L17P RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23638128_23638129delTTinsCC c.49_50delTTinsCC p.L17P RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23638128_23638129delTTinsCC c.49_50delTTinsCC p.L17P RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23638128_23638129delTTinsCC c.49_50delTTinsCC p.L17P RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23638128_23638129delTTinsCC c.49_50delTTinsCC p.L17P RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23638128_23638129delTTinsCC c.49_50delTTinsCC p.L17P RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23638128_23638129delTTinsCC c.49_50delTTinsCC p.L17P RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23638128_23638129delTTinsCC c.49_50delTTinsCC p.L17P RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23638128_23638129delTTinsCC c.49_50delTTinsCC p.L17P RefSeq GRCh38/hg38

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