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 | S1084L |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | PALB2 S1084L lies within WD repeat 5 of the Palb2 protein (UniProt.org). S1084L results in BRCA2-binding similar to wild-type Palb2 in a mammalian two-hybrid assay and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 S1084L |
Transcript | NM_024675.4 |
gDNA | chr16:g.23607963G>A |
cDNA | c.3251C>T |
Protein | p.S1084L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_024675.4 | chr16:g.23607963G>A | c.3251C>T | p.S1084L | RefSeq | GRCh38/hg38 |
XM_011545946.2 | chr16:g.23607969_23607970delAGinsCT | c.3250_3251delAGinsCT | p.S1084L | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23607963G>A | c.3251C>T | p.S1084L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|