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Gene PALB2
Variant V1123M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PALB2 V1123M lies within WD repeat 6 of the Palb2 protein (UniProt.org). V1123M does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 V1123M

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Transcript NM_024675.4
gDNA chr16:g.23603653C>T
cDNA c.3367G>A
Protein p.V1123M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_024675 chr16:g.23603653C>T c.3367G>A p.V1123M RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23603653C>T c.3367G>A p.V1123M RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23603653C>T c.3367G>A p.V1123M RefSeq GRCh38/hg38

Filtering

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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")

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