PALB2 E53K
Gene Variant Detail

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Gene PALB2
Variant E53K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PALB2 E53K lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). E53K has been identified in sequencing studies (PMID: 33193564), but has not been biochemically characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 E53K

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Transcript NM_024675.4
gDNA chr16:g.23637904C>T
cDNA c.157G>A
Protein p.E53K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407297.1 chr16:g.23637904C>T c.157G>A p.E53K RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23637904C>T c.157G>A p.E53K RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23637904C>T c.157G>A p.E53K RefSeq GRCh38/hg38
NM_024675 chr16:g.23637904C>T c.157G>A p.E53K RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23637904C>T c.157G>A p.E53K RefSeq GRCh38/hg38
XM_017023672 chr16:g.23637904C>T c.157G>A p.E53K RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23637904C>T c.157G>A p.E53K RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23637904C>T c.157G>A p.E53K RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23637904C>T c.157G>A p.E53K RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23637904C>T c.157G>A p.E53K RefSeq GRCh38/hg38
XM_017023673 chr16:g.23637904C>T c.157G>A p.E53K RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23637904C>T c.157G>A p.E53K RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23637904C>T c.157G>A p.E53K 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

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Molecular Profile Protein Effect Treatment Approaches
PALB2 E53K unknown