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 | T494Lfs*67 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PALB2 T494Lfs*67 indicates a shift in the reading frame starting at amino acid 494 and terminating 67 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). T494Lfs*67 has not been characterized, however, due to the effects of other Palb2 truncation mutations downstream of T494 (PMID: 31757951, PMID: 31636395), is predicted to lead to a loss of Palb2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 inact mut PALB2 T494Lfs*67 |
Transcript | NM_024675.4 |
gDNA | chr16:g.23635066delT |
cDNA | c.1480delA |
Protein | p.T494Lfs*67 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407300.1 | chr16:g.23635066delT | c.1480delA | p.T494Lfs*67 | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23635066delT | c.1480delA | p.T494Lfs*67 | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23635066delT | c.1480delA | p.T494Lfs*67 | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23635066delT | c.1480delA | p.T494Lfs*67 | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23635066delT | c.1480delA | p.T494Lfs*67 | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23635066delT | c.1480delA | p.T494Lfs*67 | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23635066delT | c.1480delA | p.T494Lfs*67 | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23635066delT | c.1480delA | p.T494Lfs*67 | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23635066delT | c.1480delA | p.T494Lfs*67 | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23635066delT | c.1480delA | p.T494Lfs*67 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|