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 | T734S |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | PALB2 T734S does not lie within any known functional domains of the Palb2 protein (UniProt.org). T734S 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 T734S |
| Transcript | NM_024675.4 |
| gDNA | chr16:g.23629953G>C |
| cDNA | c.2201C>G |
| Protein | p.T734S |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001407306.1 | chr16:g.23621389G>C | c.2201C>G | p.T734S | RefSeq | GRCh38/hg38 |
| NM_001407302.1 | chr16:g.23629953G>C | c.2201C>G | p.T734S | RefSeq | GRCh38/hg38 |
| NM_001407300.1 | chr16:g.23629953G>C | c.2201C>G | p.T734S | RefSeq | GRCh38/hg38 |
| XM_017023673.2 | chr16:g.23629953G>C | c.2201C>G | p.T734S | RefSeq | GRCh38/hg38 |
| NM_001407309.1 | chr16:g.23621389G>C | c.2201C>G | p.T734S | RefSeq | GRCh38/hg38 |
| XM_017023673 | chr16:g.23629953G>C | c.2201C>G | p.T734S | RefSeq | GRCh38/hg38 |
| NM_001407308.1 | chr16:g.23621389G>C | c.2201C>G | p.T734S | RefSeq | GRCh38/hg38 |
| NM_001407304.1 | chr16:g.23621389G>C | c.2201C>G | p.T734S | RefSeq | GRCh38/hg38 |
| NM_001407297.1 | chr16:g.23629953G>C | c.2201C>G | p.T734S | RefSeq | GRCh38/hg38 |
| NM_001407299.1 | chr16:g.23629953G>C | c.2201C>G | p.T734S | RefSeq | GRCh38/hg38 |
| XM_011545948.2 | chr16:g.23621389G>C | c.2201C>G | p.T734S | RefSeq | GRCh38/hg38 |
| NM_001407301.1 | chr16:g.23629953G>C | c.2201C>G | p.T734S | RefSeq | GRCh38/hg38 |
| NM_024675.4 | chr16:g.23629953G>C | c.2201C>G | p.T734S | RefSeq | GRCh38/hg38 |
| NM_001407296.1 | chr16:g.23629893G>C | c.2201C>G | p.T734S | RefSeq | GRCh38/hg38 |
| NM_024675.3 | chr16:g.23629953G>C | c.2201C>G | p.T734S | RefSeq | GRCh38/hg38 |
| NM_001407305.1 | chr16:g.23621389G>C | c.2201C>G | p.T734S | RefSeq | GRCh38/hg38 |
| NM_001407310.1 | chr16:g.23621389G>C | c.2201C>G | p.T734S | RefSeq | GRCh38/hg38 |
| XM_017023672 | chr16:g.23629953G>C | c.2201C>G | p.T734S | RefSeq | GRCh38/hg38 |
| XM_017023672.2 | chr16:g.23629953G>C | c.2201C>G | p.T734S | RefSeq | GRCh38/hg38 |
| NM_001407298.1 | chr16:g.23629953G>C | c.2201C>G | p.T734S | RefSeq | GRCh38/hg38 |
| NM_001407311.1 | chr16:g.23621389G>C | c.2201C>G | p.T734S | RefSeq | GRCh38/hg38 |
| NM_024675 | chr16:g.23629953G>C | c.2201C>G | p.T734S | RefSeq | GRCh38/hg38 |
| XM_011545948 | chr16:g.23621389G>C | c.2201C>G | p.T734S | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|