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Gene | PALB2 |
Variant | T397S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 T397S lies within the DNA-binding and chromatin-association motif regions of the Palb2 protein (UniProt.org). T397S does not demonstrate reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31636395) and demonstrates chromatin association similar to wild-type Palb2 in cell culture (PMID: 29387807), 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 T397S |
Transcript | NM_024675.4 |
gDNA | chr16:g.23635357T>A |
cDNA | c.1189A>T |
Protein | p.T397S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407313.1 | chr16:g.23622988T>A | c.1189A>T | p.T397S | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23635357T>A | c.1189A>T | p.T397S | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23635357T>A | c.1189A>T | p.T397S | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23635357T>A | c.1189A>T | p.T397S | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23635357T>A | c.1189A>T | p.T397S | RefSeq | GRCh38/hg38 |
XM_017023673 | chr16:g.23635357T>A | c.1189A>T | p.T397S | RefSeq | GRCh38/hg38 |
XM_017023672 | chr16:g.23635357T>A | c.1189A>T | p.T397S | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23635357T>A | c.1189A>T | p.T397S | RefSeq | GRCh38/hg38 |
NM_001407312.1 | chr16:g.23622988T>A | c.1189A>T | p.T397S | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23635357T>A | c.1189A>T | p.T397S | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23635357T>A | c.1189A>T | p.T397S | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23635357T>A | c.1189A>T | p.T397S | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23635357T>A | c.1189A>T | p.T397S | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23635357T>A | c.1189A>T | p.T397S | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23635357T>A | c.1189A>T | p.T397S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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