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Gene | PALB2 |
Variant | Y1108fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PALB2 Y1108fs results in a change in the amino acid sequence of the Palb2 protein beginning at aa 1108 of 1186, likely resulting in premature truncation of the functional protein (UniProt.org). Y1108fs results in impaired homology-directed DNA repair activity similar to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31636395), and therefore, is predicted to lead to a loss of protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 inact mut PALB2 Y1108fs |
Transcript | NM_024675.4 |
gDNA | chr16:g.(23607892_23607893) |
cDNA | c.(3322_3321) |
Protein | p.Y1108fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_024675.3 | chr16:g.(23607892_23607893) | c.(3322_3321) | p.Y1108fs | RefSeq | GRCh38/hg38 |
XM_017023671.1 | chr16:g.(23603467_23603468) | c.(3322_3321) | p.Y1108fs | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.(23607892_23607893) | c.(3322_3321) | p.Y1108fs | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.(23607892_23607893) | c.(3322_3321) | p.Y1108fs | RefSeq | GRCh38/hg38 |
XM_017023671 | chr16:g.(23603467_23603468) | c.(3322_3321) | p.Y1108fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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