PALB2 S387Lfs*14
Gene Variant Detail

Request Content

Contact

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 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

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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
XM_011545948.2 chr16:g.(23630066_23630110) c.(1159_1203) p.S387Lfs*14 RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23635389dupG c.1158dupC 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
NM_001407305.1 chr16:g.(23630066_23630110) c.(1159_1203) p.S387Lfs*14 RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23635389dupG c.1158dupC p.S387Lfs*14 RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23635389dupG c.1158dupC 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_017023673.2 chr16:g.23635389dupG c.1158dupC p.S387Lfs*14 RefSeq GRCh38/hg38
NM_001407300.1 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_001407309.1 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_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_001407298.1 chr16:g.23635389dupG c.1158dupC p.S387Lfs*14 RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23635389dupG c.1158dupC p.S387Lfs*14 RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
PALB2 S387Lfs*14 loss of function - predicted PARP Inhibitor (Pan)