Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene PALB2
Variant P812L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PALB2 P812L lies within a region of the Palb2 protein required for POLH interaction and POLH DNA synthesis stimulation (UniProt.org). P812L has not been characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, Nov 2023).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 P812L

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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Transcript NM_024675.4
gDNA chr16:g.23629719G>A
cDNA c.2435C>T
Protein p.P812L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023671 chr16:g.23629725G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
XM_017023671.1 chr16:g.23629725G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
XM_011545947 chr16:g.23629725G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
XM_017023673 chr16:g.23629719G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
XM_011545946.2 chr16:g.23629725G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23629719G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
XM_017023672 chr16:g.23629719G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
NM_024675 chr16:g.23629719G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23629719G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23629719G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23629719G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23629719G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
XM_011545946 chr16:g.23629725G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23629719G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23629719G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23629719G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
XM_011545947.2 chr16:g.23629725G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23629719G>A c.2435C>T p.P812L RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23629719G>A c.2435C>T p.P812L 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PALB2 mutant pancreatic adenocarcinoma sensitive Fluorouracil + Irinotecan + Leucovorin + Oxaliplatin Guideline Actionable FOLFIRINOX is included in guidelines as a preferred first-line therapy for patients with locally advanced or metastatic pancreatic adenocarcinoma harboring PALB2 mutations with good performance status (ECOG 0 -1) (NCCN.org). detail...
PALB2 mutant pancreatic cancer predicted - sensitive Talazoparib Case Reports/Case Series Actionable In a Phase I trial, Talzenna (talazoparib) treatment resulted in an objective response rate of 20.0% (2/10, 2 partial responses) and a clinical benefit rate of 30.0% in patients with pancreatic cancer, including a partial response in one patient harboring a PALB2 mutation (PMID: 28242752; NCT01286987). 28242752
PALB2 mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline PALB2 mutations are associated with increased pancreatic cancer susceptibility (NCCN.org). detail...
PALB2 mutant pancreatic adenocarcinoma sensitive Cisplatin + Gemcitabine Guideline Actionable Platinol (cisplatin), in combination with Gemzar (gemcitabine), is included in guidelines as a preferred first-line therapy for patients with locally advanced or metastatic pancreatic adenocarcinoma harboring PALB2 mutations with good performance status (ECOG 0 -1), and as a subsequent therapy for patients with locally advanced, metastatic, or recurrent diseases (NCCN.org). detail...
PALB2 mutant pancreatic adenocarcinoma sensitive Rucaparib Guideline Actionable Rubraca (rucaparib) is included in guidelines as maintenance therapy following prior platinum-based therapy for patients with metastatic pancreatic adenocarcinoma harboring germline PALB2 mutations (NCCN.org). detail...
PALB2 mutant prostate cancer not applicable N/A Guideline Risk Factor Germline PALB2 mutations are associated with increased risk of developing prostate cancer (NCCN.org). detail...
PALB2 mutant uveal melanoma not applicable N/A Guideline Risk Factor Germline PALB2 mutations are associated with familial uveal melanoma and increased risk of developing uveal melanoma (NCCN.org). detail...