PALB2 L936S
Gene Variant Detail

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Gene PALB2
Variant L936S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PALB2 L936S lies within WD repeat 2 of the Palb2 protein (UniProt.org). L936S does not demonstrate reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31636395), but has not been fully biochemically characterized and therefore, its effect on protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 L936S

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Transcript NM_024675.4
gDNA chr16:g.23624036A>G
cDNA c.2807T>C
Protein p.L936S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407297.1 chr16:g.23623086_23623087delCTinsTC c.2806_2807delCTinsTC p.L936S RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23624036A>G c.2807T>C p.L936S RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23624036A>G c.2807T>C p.L936S RefSeq GRCh38/hg38
XM_017023673 chr16:g.23624036A>G c.2807T>C p.L936S RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23624036A>G c.2807T>C p.L936S RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23624036A>G c.2807T>C p.L936S RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23624036A>G c.2807T>C p.L936S RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23624036A>G c.2807T>C p.L936S RefSeq GRCh38/hg38
XM_017023672 chr16:g.23624036A>G c.2807T>C p.L936S RefSeq GRCh38/hg38
NM_024675 chr16:g.23624036A>G c.2807T>C p.L936S RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23624036A>G c.2807T>C p.L936S 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries