Gene Variant Detail

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Gene PALB2
Variant R753Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PALB2 R753Q does not lie within any known functional domains of the Palb2 protein (UniProt.org). R753Q has been identified in the scientific literature (PMID: 24728327, PMID: 26343386, PMID: 34635506), but has not been biochemically characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, Nov 2023).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 R753Q

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Transcript NM_024675.4
gDNA chr16:g.23629896C>T
cDNA c.2258G>A
Protein p.R753Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_024675.3 chr16:g.23629896C>T c.2258G>A p.R753Q RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23629896C>T c.2258G>A p.R753Q RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23629896C>T c.2258G>A p.R753Q RefSeq GRCh38/hg38
XM_017023673 chr16:g.23629896C>T c.2258G>A p.R753Q RefSeq GRCh38/hg38
NM_024675 chr16:g.23629896C>T c.2258G>A p.R753Q RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23629896C>T c.2258G>A p.R753Q RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23629896C>T c.2258G>A p.R753Q RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23629896C>T c.2258G>A p.R753Q RefSeq GRCh38/hg38
XM_017023672 chr16:g.23629896C>T c.2258G>A p.R753Q RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23629896C>T c.2258G>A p.R753Q RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23629896C>T c.2258G>A p.R753Q RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23629896C>T c.2258G>A p.R753Q RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23629896C>T c.2258G>A p.R753Q RefSeq GRCh38/hg38

Filtering

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