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Gene PALB2
Variant S64L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PALB2 S64L lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). S64L retains the association with Brca1, Keap1, Rad51, and Rad51ap1, but results in decreased recruitment of Palb2 and Rad51 to nuclear foci, impaired homologous recombination, and failure to rescue PARP inhibitor sensitivity in PALB2-deficient cells in culture (PMID: 33169439).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 S64L

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Transcript NM_024675.4
gDNA chr16:g.23637870G>A
cDNA c.191C>T
Protein p.S64L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407306.1 chr16:g.23635470_23635471delAGinsCT c.190_191delAGinsCT p.S64L RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23637870G>A c.191C>T p.S64L RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23637870G>A c.191C>T p.S64L RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23637870G>A c.191C>T p.S64L RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23637870G>A c.191C>T p.S64L RefSeq GRCh38/hg38
NM_001407307.1 chr16:g.23635470_23635471delAGinsCT c.190_191delAGinsCT p.S64L RefSeq GRCh38/hg38
NM_001407305.1 chr16:g.23635470_23635471delAGinsCT c.190_191delAGinsCT p.S64L RefSeq GRCh38/hg38
NM_001407312.1 chr16:g.23630175_23630176delAGinsCT c.190_191delAGinsCT p.S64L RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23637870G>A c.191C>T p.S64L RefSeq GRCh38/hg38
NM_001407311.1 chr16:g.23635470_23635471delAGinsCT c.190_191delAGinsCT p.S64L RefSeq GRCh38/hg38
NM_001407308.1 chr16:g.23635470_23635471delAGinsCT c.190_191delAGinsCT p.S64L RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23637870G>A c.191C>T p.S64L RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23637870G>A c.191C>T p.S64L RefSeq GRCh38/hg38
NM_001407313.1 chr16:g.23630175_23630176delAGinsCT c.190_191delAGinsCT p.S64L RefSeq GRCh38/hg38
NM_001407309.1 chr16:g.23635470_23635471delAGinsCT c.190_191delAGinsCT p.S64L RefSeq GRCh38/hg38
NM_001407310.1 chr16:g.23635470_23635471delAGinsCT c.190_191delAGinsCT p.S64L RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23637870G>A c.191C>T p.S64L RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23637870G>A c.191C>T p.S64L RefSeq GRCh38/hg38
NM_001407304.1 chr16:g.23635470_23635471delAGinsCT c.190_191delAGinsCT p.S64L RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23637870G>A c.191C>T p.S64L RefSeq GRCh38/hg38
XM_011545948.2 chr16:g.23635470_23635471delAGinsCT c.190_191delAGinsCT p.S64L RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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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