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 | S64L |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PALB2 S64L lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). S64L retains the association with Brca1, Keap1, Rad51, and Rad51ap1, but results in decreased recruitment of Palb2 and Rad51 to nuclear foci, impaired homologous recombination, and failure to rescue PARP inhibitor sensitivity in PALB2-deficient cells in culture (PMID: 33169439). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 inact mut PALB2 S64L |
Transcript | NM_024675.4 |
gDNA | chr16:g.23637870G>A |
cDNA | c.191C>T |
Protein | p.S64L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_024675.4 | chr16:g.23637870G>A | c.191C>T | p.S64L | RefSeq | GRCh38/hg38 |
NM_001407306.1 | chr16:g.23635470_23635471delAGinsCT | c.190_191delAGinsCT | p.S64L | RefSeq | GRCh38/hg38 |
XM_011545948.2 | chr16:g.23635470_23635471delAGinsCT | c.190_191delAGinsCT | p.S64L | RefSeq | GRCh38/hg38 |
NM_001407304.1 | chr16:g.23635470_23635471delAGinsCT | c.190_191delAGinsCT | p.S64L | RefSeq | GRCh38/hg38 |
NM_001407305.1 | chr16:g.23635470_23635471delAGinsCT | c.190_191delAGinsCT | p.S64L | RefSeq | GRCh38/hg38 |
NM_001407309.1 | chr16:g.23635470_23635471delAGinsCT | c.190_191delAGinsCT | p.S64L | RefSeq | GRCh38/hg38 |
NM_001407311.1 | chr16:g.23635470_23635471delAGinsCT | c.190_191delAGinsCT | p.S64L | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23637870G>A | c.191C>T | p.S64L | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23637870G>A | c.191C>T | p.S64L | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23637870G>A | c.191C>T | p.S64L | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23637870G>A | c.191C>T | p.S64L | RefSeq | GRCh38/hg38 |
NM_001407310.1 | chr16:g.23635470_23635471delAGinsCT | c.190_191delAGinsCT | p.S64L | RefSeq | GRCh38/hg38 |
NM_001407307.1 | chr16:g.23635470_23635471delAGinsCT | c.190_191delAGinsCT | p.S64L | RefSeq | GRCh38/hg38 |
NM_001407308.1 | chr16:g.23635470_23635471delAGinsCT | c.190_191delAGinsCT | p.S64L | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23637870G>A | c.191C>T | p.S64L | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23637870G>A | c.191C>T | p.S64L | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23637870G>A | c.191C>T | p.S64L | RefSeq | GRCh38/hg38 |
NM_001407313.1 | chr16:g.23630175_23630176delAGinsCT | c.190_191delAGinsCT | p.S64L | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23637870G>A | c.191C>T | p.S64L | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23637870G>A | c.191C>T | p.S64L | RefSeq | GRCh38/hg38 |
NM_001407312.1 | chr16:g.23630175_23630176delAGinsCT | c.190_191delAGinsCT | p.S64L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|