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Gene | PALB2 |
Variant | A1173S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 A1173S lies within WD repeat 7 of the Palb2 protein (UniProt.org). A1173S has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 A1173S |
Transcript | NM_024675.4 |
gDNA | chr16:g.23603503C>A |
cDNA | c.3517G>T |
Protein | p.A1173S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_024675 | chr16:g.23603503C>A | c.3517G>T | p.A1173S | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23603503C>A | c.3517G>T | p.A1173S | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23603503C>A | c.3517G>T | p.A1173S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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