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Gene PALB2
Variant P729H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PALB2 P729H does not lie within any known functional domains of the Palb2 protein (UniProt.org). P729H has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, Nov 2023).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 P729H

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Transcript NM_024675.4
gDNA chr16:g.23629968G>T
cDNA c.2186C>A
Protein p.P729H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407298.1 chr16:g.23629968G>T c.2186C>A p.P729H RefSeq GRCh38/hg38
XM_017023672 chr16:g.23629968G>T c.2186C>A p.P729H RefSeq GRCh38/hg38
XM_017023673 chr16:g.23629968G>T c.2186C>A p.P729H RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23629968G>T c.2186C>A p.P729H RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23629968G>T c.2186C>A p.P729H RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23629968G>T c.2186C>A p.P729H RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23629968G>T c.2186C>A p.P729H RefSeq GRCh38/hg38
NM_024675 chr16:g.23629968G>T c.2186C>A p.P729H RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23629968G>T c.2186C>A p.P729H RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23629968G>T c.2186C>A p.P729H RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23629968G>T c.2186C>A p.P729H RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23629968G>T c.2186C>A p.P729H RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23629968G>T c.2186C>A p.P729H RefSeq GRCh38/hg38

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