PALB2 I1180T
Gene Variant Detail

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Gene PALB2
Variant I1180T
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions PALB2 I1180T lies within WD repeat 7 of the Palb2 protein (UniProt.org). I1180T results in Brca2 binding similar to wild-type Palb2 in cultured cells (PMID: 31586400), and does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31636395, PMID: 31757951), and therefore, is predicted to have no effect on Palb2 protein function.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 I1180T

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Transcript NM_024675.4
gDNA chr16:g.23603481A>G
cDNA c.3539T>C
Protein p.I1180T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_024675.3 chr16:g.23603481A>G c.3539T>C p.I1180T RefSeq GRCh38/hg38
NM_024675 chr16:g.23603481A>G c.3539T>C p.I1180T RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23603481A>G c.3539T>C p.I1180T RefSeq GRCh38/hg38

Filtering

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  • 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.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References