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Gene | PALB2 |
Variant | A1079S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 A1079S lies within WD repeat 5 of the Palb2 protein (UniProt.org). A1079S results in increased sensitivity to DNA damage in patient cells (PMID: 34382369), 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 A1079S |
Transcript | NM_024675.4 |
gDNA | chr16:g.23607979C>A |
cDNA | c.3235G>T |
Protein | p.A1079S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_024675.4 | chr16:g.23607979C>A | c.3235G>T | p.A1079S | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23607979C>A | c.3235G>T | p.A1079S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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