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Gene | PALB2 |
Variant | Q420A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 Q420A lies within the DNA-binding and chromatin-association motif regions of the Palb2 protein (UniProt.org). Q420A retains chromatin binding in an in vitro assay (PMID: 32041954), 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 Q420A |
Transcript | NM_024675.4 |
gDNA | chr16:g.23635287_23635288delCAinsGC |
cDNA | c.1258_1259delCAinsGC |
Protein | p.Q420A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407298.1 | chr16:g.23635287_23635288delCAinsGC | c.1258_1259delCAinsGC | p.Q420A | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23635287_23635288delCAinsGC | c.1258_1259delCAinsGC | p.Q420A | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23635287_23635288delCAinsGC | c.1258_1259delCAinsGC | p.Q420A | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23635287_23635288delCAinsGC | c.1258_1259delCAinsGC | p.Q420A | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23635287_23635288delCAinsGC | c.1258_1259delCAinsGC | p.Q420A | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23635287_23635288delCAinsGC | c.1258_1259delCAinsGC | p.Q420A | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23635287_23635288delCAinsGC | c.1258_1259delCAinsGC | p.Q420A | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23635287_23635288delCAinsGC | c.1258_1259delCAinsGC | p.Q420A | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23635287_23635288delCAinsGC | c.1258_1259delCAinsGC | p.Q420A | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23635287_23635288delCAinsGC | c.1258_1259delCAinsGC | p.Q420A | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PALB2 Q420A | unknown |