PALB2 R414K
Gene Variant Detail

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Gene PALB2
Variant R414K
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions PALB2 R414K lies within the DNA-binding and chromatin-association motif regions of the Palb2 protein (UniProt.org). R414K results in loss of chromatin binding in an in vitro assay (PMID: 32041954), 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 R414K

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Transcript NM_024675.4
gDNA chr16:g.23635305_23635306delCGinsAA
cDNA c.1240_1241delCGinsAA
Protein p.R414K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407297.1 chr16:g.23635305_23635306delCGinsAA c.1240_1241delCGinsAA p.R414K RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23635305_23635306delCGinsAA c.1240_1241delCGinsAA p.R414K RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23635305_23635306delCGinsAA c.1240_1241delCGinsAA p.R414K RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23635305_23635306delCGinsAA c.1240_1241delCGinsAA p.R414K RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23635305_23635306delCGinsAA c.1240_1241delCGinsAA p.R414K RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23635305_23635306delCGinsAA c.1240_1241delCGinsAA p.R414K RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23635305_23635306delCGinsAA c.1240_1241delCGinsAA p.R414K RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23635305_23635306delCGinsAA c.1240_1241delCGinsAA p.R414K RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23635305_23635306delCGinsAA c.1240_1241delCGinsAA p.R414K RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23635305_23635306delCGinsAA c.1240_1241delCGinsAA p.R414K RefSeq GRCh38/hg38

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