PALB2 E837K
Gene Variant Detail

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Gene PALB2
Variant E837K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PALB2 E837K lies within a region of the Palb2 protein required for POLH interaction and POLH DNA synthesis stimulation (UniProt.org). E837K has been identified in sequencing studies (PMID: 30702443, PMID: 24755471, PMID: 29190888), 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 E837K

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Transcript NM_024675.4
gDNA chr16:g.23629645C>T
cDNA c.2509G>A
Protein p.E837K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023672 chr16:g.23629645C>T c.2509G>A p.E837K RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23629645C>T c.2509G>A p.E837K RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23629645C>T c.2509G>A p.E837K RefSeq GRCh38/hg38
XM_017023673 chr16:g.23629645C>T c.2509G>A p.E837K RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23629645C>T c.2509G>A p.E837K RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23629645C>T c.2509G>A p.E837K RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23629645C>T c.2509G>A p.E837K RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23629645C>T c.2509G>A p.E837K RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23629645C>T c.2509G>A p.E837K RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23629645C>T c.2509G>A p.E837K RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23629645C>T c.2509G>A p.E837K RefSeq GRCh38/hg38
NM_024675 chr16:g.23629645C>T c.2509G>A p.E837K RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23629645C>T c.2509G>A p.E837K RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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  • 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