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 E19D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PALB2 E19D lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). E19D 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 E19D

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.23638121C>G
cDNA c.57G>C
Protein p.E19D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023673 chr16:g.23638121C>G c.57G>C p.E19D RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23638121C>G c.57G>C p.E19D RefSeq GRCh38/hg38
NM_024675 chr16:g.23638121C>G c.57G>C p.E19D RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23638121C>G c.57G>C p.E19D RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23638121C>G c.57G>C p.E19D RefSeq GRCh38/hg38
XM_017023672 chr16:g.23638121C>G c.57G>C p.E19D RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23638121C>G c.57G>C p.E19D RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23638121C>G c.57G>C p.E19D RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23638121C>G c.57G>C p.E19D RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23638121C>G c.57G>C p.E19D RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23638121C>G c.57G>C p.E19D RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23638121C>G c.57G>C p.E19D RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23638121C>G c.57G>C p.E19D 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