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 | T413Hfs*11 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PALB2 T413Hfs*11 indicates a shift in the reading frame starting at amino acid 413 and terminating 11 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). T413Hfs*11 has not been characterized however, due to the effects of other truncation mutations downstream of T413 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 inact mut PALB2 T413Hfs*11 |
Transcript | NM_024675.4 |
gDNA | chr16:g.23635310delT |
cDNA | c.1237delA |
Protein | p.T413Hfs*11 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |