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Gene | PALB2 |
Variant | S1058P |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | PALB2 S1058P lies within WD repeat 5 of the Palb2 protein (UniProt.org). S1058P results in DNA damage-induced cell cycle checkpoint maintenance similar to wild-type Palb2 and does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951), and therefore, is predicted to have no effect on Palb2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 S1058P |
Transcript | NM_024675.4 |
gDNA | chr16:g.23614033A>G |
cDNA | c.3172T>C |
Protein | p.S1058P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017023673 | chr16:g.23614033A>G | c.3172T>C | p.S1058P | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23614033A>G | c.3172T>C | p.S1058P | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23607969_23607970delAGinsCC | c.3172_3173delAGinsCC | p.S1058P | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23614033A>G | c.3172T>C | p.S1058P | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23614033A>G | c.3172T>C | p.S1058P | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23614033A>G | c.3172T>C | p.S1058P | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23614033A>G | c.3172T>C | p.S1058P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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