PALB2 A38V
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 A38V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PALB2 A38V lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). A38V demonstrates homology-directed DNA repair activity in cultured cells (PMID: 33811135), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 A38V

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.23637948G>A
cDNA c.113C>T
Protein p.A38V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407302.1 chr16:g.23637948G>A c.113C>T p.A38V RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23637948G>A c.113C>T p.A38V RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23637948G>A c.113C>T p.A38V RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23637948G>A c.113C>T p.A38V RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23637948G>A c.113C>T p.A38V RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23637948G>A c.113C>T p.A38V RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23637948G>A c.113C>T p.A38V RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23637948G>A c.113C>T p.A38V RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23637948G>A c.113C>T p.A38V RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23637948G>A c.113C>T p.A38V 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 A38V Advanced Solid Tumor no benefit Olaparib Preclinical - Cell culture Actionable In a preclinical study, expressing PALB2 A38V did not confer sensitivity to Lynparza (olaparib)-induced growth inhibition in TP53 and PALB2 double knock-out mouse embryonic stem cells in culture (PMID: 33811135). 33811135