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 | F440fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PALB2 F440fs results in a change in the amino acid sequence of the Palb2 protein beginning at aa 440 of 1186, likely resulting in premature truncation of the functional protein (UniProt.org). F440fs has not been characterized however, due to the effects of other truncation mutations downstream of F440 (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 F440fs |
Transcript | NM_024675.4 |
gDNA | chr16:g.(23635228_23635229) |
cDNA | c.(1318_1317) |
Protein | p.F440fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_024675.3 | chr16:g.(23635228_23635229) | c.(1318_1317) | p.F440fs | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.(23635228_23635229) | c.(1318_1317) | p.F440fs | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.(23635228_23635229) | c.(1318_1317) | p.F440fs | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.(23635228_23635229) | c.(1318_1317) | p.F440fs | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.(23635228_23635229) | c.(1318_1317) | p.F440fs | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.(23635228_23635229) | c.(1318_1317) | p.F440fs | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.(23635228_23635229) | c.(1318_1317) | p.F440fs | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.(23635228_23635229) | c.(1318_1317) | p.F440fs | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.(23635228_23635229) | c.(1318_1317) | p.F440fs | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.(23635228_23635229) | c.(1318_1317) | p.F440fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|