PALB2 R594K
Gene Variant Detail

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Gene PALB2
Variant R594K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PALB2 R594K does not lie within any known functional domains of the Palb2 protein (UniProt.org). R594K has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 R594K

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Transcript NM_024675.4
gDNA chr16:g.23630373C>T
cDNA c.1781G>A
Protein p.R594K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407299.1 chr16:g.23630373C>T c.1781G>A p.R594K RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23630373C>T c.1781G>A p.R594K RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23630373C>T c.1781G>A p.R594K RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23630373C>T c.1781G>A p.R594K RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23630373C>T c.1781G>A p.R594K RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23630373C>T c.1781G>A p.R594K RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23630373C>T c.1781G>A p.R594K RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23630373C>T c.1781G>A p.R594K RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23630373C>T c.1781G>A p.R594K RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23630373C>T c.1781G>A p.R594K RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PALB2 mutant uveal melanoma not applicable N/A Guideline Risk Factor Germline PALB2 mutations are associated with familial uveal melanoma and increased risk of developing uveal melanoma (NCCN.org). detail...
PALB2 mutant pancreatic adenocarcinoma sensitive Fluorouracil + Irinotecan + Leucovorin + Oxaliplatin Guideline Actionable FOLFIRINOX is included in guidelines as a preferred neoadjuvant therapy for pancreatic adenocarcinoma patients harboring PALB2 mutations with resectable/borderline resectable disease and as a preferred first-line therapy for patients with locally advanced or metastatic disease with good performance status (ECOG 0 -1) (NCCN.org). detail...
PALB2 mutant ovarian cancer not applicable N/A Guideline Risk Factor Germline PALB2 mutations are associated with increased risk of developing ovarian cancer (NCCN.org). detail...
PALB2 mutant pancreatic cancer predicted - sensitive Talazoparib Case Reports/Case Series Actionable In a Phase I trial, Talzenna (talazoparib) treatment resulted in an objective response rate of 20.0% (2/10, 2 partial responses) and a clinical benefit rate of 30.0% in patients with pancreatic cancer, including a partial response in one patient harboring a PALB2 mutation (PMID: 28242752; NCT01286987). 28242752
PALB2 mutant prostate cancer not applicable N/A Guideline Risk Factor Germline PALB2 mutations are associated with increased risk of developing prostate cancer (NCCN.org). detail...
PALB2 mutant pancreatic adenocarcinoma sensitive Cisplatin + Gemcitabine Guideline Actionable Platinol (cisplatin) in combination with Gemzar (gemcitabine) is included in guidelines as a preferred neoadjuvant therapy for pancreatic adenocarcinoma patients harboring PALB2 mutations with resectable/borderline resectable disease, as a preferred first-line therapy in patients with locally advanced or metastatic disease with good performance status (ECOG 0 -1), and as subsequent therapy for patients with locally advanced, metastatic, or recurrent diseases (NCCN.org). detail...
PALB2 mutant breast cancer not applicable N/A Guideline Risk Factor Germline PALB2 mutations are associated with increased risk of developing breast cancer (NCCN.org). detail...
PALB2 mutant pancreatic adenocarcinoma sensitive Rucaparib Guideline Actionable Rubraca (rucaparib) is included in guidelines as maintenance therapy following prior platinum-based therapy for patients with metastatic pancreatic adenocarcinoma harboring germline or somatic PALB2 mutations (NCCN.org). detail...
PALB2 mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline PALB2 mutations are associated with increased pancreatic cancer susceptibility (NCCN.org). detail...