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 | V1103L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 V1103L lies within WD repeat 5 of the Palb2 protein (UniProt.org). V1103L does not demonstrate reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31636395), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 V1103L |
Transcript | NM_024675.4 |
gDNA | chr16:g.23607907C>G |
cDNA | c.3307G>C |
Protein | p.V1103L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407296.1 | chr16:g.23603653C>G | c.3307G>C | p.V1103L | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23607907C>G | c.3307G>C | p.V1103L | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23607907C>G | c.3307G>C | p.V1103L | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23603476C>G | c.3307G>C | p.V1103L | RefSeq | GRCh38/hg38 |
XM_017023672 | chr16:g.23603476C>G | c.3307G>C | p.V1103L | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23603476C>G | c.3307G>C | p.V1103L | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23607907C>G | c.3307G>C | p.V1103L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|