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 | S387Lfs*14 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PALB2 S387Lfs*14 indicates a shift in the reading frame starting at amino acid 387 and terminating 14 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). S387Lfs*14 has not been characterized, however, due to the effects of other truncation mutations downstream of S387 (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 S387Lfs*14 |
Transcript | NM_024675.4 |
gDNA | chr16:g.23635389dupG |
cDNA | c.1158dupC |
Protein | p.S387Lfs*14 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_024675.4 | chr16:g.23635389dupG | c.1158dupC | p.S387Lfs*14 | RefSeq | GRCh38/hg38 |
NM_001407309.1 | chr16:g.(23630066_23630110) | c.(1159_1203) | p.S387Lfs*14 | RefSeq | GRCh38/hg38 |
NM_001407305.1 | chr16:g.(23630066_23630110) | c.(1159_1203) | p.S387Lfs*14 | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23635389dupG | c.1158dupC | p.S387Lfs*14 | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23635389dupG | c.1158dupC | p.S387Lfs*14 | RefSeq | GRCh38/hg38 |
XM_011545948.2 | chr16:g.(23630066_23630110) | c.(1159_1203) | p.S387Lfs*14 | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23635389dupG | c.1158dupC | p.S387Lfs*14 | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23635389dupG | c.1158dupC | p.S387Lfs*14 | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23635389dupG | c.1158dupC | p.S387Lfs*14 | RefSeq | GRCh38/hg38 |
NM_001407306.1 | chr16:g.(23630066_23630110) | c.(1159_1203) | p.S387Lfs*14 | RefSeq | GRCh38/hg38 |
NM_001407307.1 | chr16:g.(23630066_23630110) | c.(1159_1203) | p.S387Lfs*14 | RefSeq | GRCh38/hg38 |
NM_001407311.1 | chr16:g.(23630066_23630110) | c.(1159_1203) | p.S387Lfs*14 | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23635389dupG | c.1158dupC | p.S387Lfs*14 | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23635389dupG | c.1158dupC | p.S387Lfs*14 | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23635389dupG | c.1158dupC | p.S387Lfs*14 | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23635389dupG | c.1158dupC | p.S387Lfs*14 | RefSeq | GRCh38/hg38 |
NM_001407308.1 | chr16:g.(23630066_23630110) | c.(1159_1203) | p.S387Lfs*14 | RefSeq | GRCh38/hg38 |
NM_001407304.1 | chr16:g.(23630066_23630110) | c.(1159_1203) | p.S387Lfs*14 | RefSeq | GRCh38/hg38 |
NM_001407310.1 | chr16:g.(23630066_23630110) | c.(1159_1203) | p.S387Lfs*14 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|