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Gene | PALB2 |
Variant | R753Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 R753Q does not lie within any known functional domains of the Palb2 protein (UniProt.org). R753Q has been identified in the scientific literature (PMID: 24728327, PMID: 26343386, PMID: 34635506), but has not been biochemically characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 R753Q |
Transcript | NM_024675.4 |
gDNA | chr16:g.23629896C>T |
cDNA | c.2258G>A |
Protein | p.R753Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017023673 | chr16:g.23629896C>T | c.2258G>A | p.R753Q | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23629896C>T | c.2258G>A | p.R753Q | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23629896C>T | c.2258G>A | p.R753Q | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23629896C>T | c.2258G>A | p.R753Q | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23629896C>T | c.2258G>A | p.R753Q | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23629896C>T | c.2258G>A | p.R753Q | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23629896C>T | c.2258G>A | p.R753Q | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23629896C>T | c.2258G>A | p.R753Q | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23629896C>T | c.2258G>A | p.R753Q | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23629896C>T | c.2258G>A | p.R753Q | RefSeq | GRCh38/hg38 |
XM_017023672 | chr16:g.23629896C>T | c.2258G>A | p.R753Q | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23629896C>T | c.2258G>A | p.R753Q | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23629896C>T | c.2258G>A | p.R753Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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