PALB2 E672Q
Gene Variant Detail

Request Content

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@genomenon.com

Gene PALB2
Variant E672Q
Impact List missense
Protein Effect no effect
Gene Variant Descriptions PALB2 E672Q does not lie within any known functional domains of the Palb2 protein (UniProt.org). E672Q results in homology-directed DNA repair activity similar to wild-type Palb2 in a reporter assay (PMID: 33964450), and homology-directed DNA repair activity similar to wild-type in cultured cells lacking Tp53 (PMID: 31636395, PMID: 31757951).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 E672Q

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.23630140C>G
cDNA c.2014G>C
Protein p.E672Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407297.1 chr16:g.23630140C>G c.2014G>C p.E672Q RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23630140C>G c.2014G>C p.E672Q RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23630140C>G c.2014G>C p.E672Q RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23630140C>G c.2014G>C p.E672Q RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23630140C>G c.2014G>C p.E672Q RefSeq GRCh38/hg38
XM_017023673 chr16:g.23630140C>G c.2014G>C p.E672Q RefSeq GRCh38/hg38
NM_024675 chr16:g.23630140C>G c.2014G>C p.E672Q RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23630140C>G c.2014G>C p.E672Q RefSeq GRCh38/hg38
XM_017023672 chr16:g.23630140C>G c.2014G>C p.E672Q RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23630140C>G c.2014G>C p.E672Q RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23630140C>G c.2014G>C p.E672Q RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23630140C>G c.2014G>C p.E672Q RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23630140C>G c.2014G>C p.E672Q 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 Protein Effect Treatment Approaches
PALB2 E672Q no effect