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Gene PALB2
Variant E347K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PALB2 E347K lies within the DNA-binding region of the Palb2 protein (UniProt.org). E347K has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, Oct 2023).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 E347K

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Transcript NM_024675.4
gDNA chr16:g.23635507C>T
cDNA c.1039G>A
Protein p.E347K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023672.2 chr16:g.23635507C>T c.1039G>A p.E347K RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23635507C>T c.1039G>A p.E347K RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23635507C>T c.1039G>A p.E347K RefSeq GRCh38/hg38
XM_017023672 chr16:g.23635507C>T c.1039G>A p.E347K RefSeq GRCh38/hg38
NM_024675 chr16:g.23635507C>T c.1039G>A p.E347K RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23635507C>T c.1039G>A p.E347K RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23635507C>T c.1039G>A p.E347K RefSeq GRCh38/hg38
NM_001407312.1 chr16:g.23624016C>T c.1039G>A p.E347K RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23635507C>T c.1039G>A p.E347K RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23635507C>T c.1039G>A p.E347K RefSeq GRCh38/hg38
NM_001407313.1 chr16:g.23624016C>T c.1039G>A p.E347K RefSeq GRCh38/hg38
NM_001407296.1 chr16:g.23635447C>T c.1039G>A p.E347K RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23635507C>T c.1039G>A p.E347K RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23635507C>T c.1039G>A p.E347K RefSeq GRCh38/hg38
XM_017023673 chr16:g.23635507C>T c.1039G>A p.E347K RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23635507C>T c.1039G>A p.E347K 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 )
  • 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References