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 | L1172P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PALB2 L1172P lies within WD repeat 7 of the Palb2 protein (UniProt.org). L1172P confers a loss of function to the Palb2 protein as demonstrated by decreased protein stability and impaired homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 inact mut PALB2 L1172P |
Transcript | NM_024675.4 |
gDNA | chr16:g.23603505A>G |
cDNA | c.3515T>C |
Protein | p.L1172P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_024675 | chr16:g.23603505A>G | c.3515T>C | p.L1172P | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23603505A>G | c.3515T>C | p.L1172P | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23603505A>G | c.3515T>C | p.L1172P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|