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_024675.3 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_001407299.1 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
XM_017023673.2 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_024675.4 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
NM_001407301.1 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

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries