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Gene | PALB2 |
Variant | E837K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 E837K lies within a region of the Palb2 protein required for POLH interaction and POLH DNA synthesis stimulation (UniProt.org). E837K has been identified in sequencing studies (PMID: 30702443, PMID: 24755471, PMID: 29190888), but has not been biochemically characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, Oct 2023). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 E837K |
Transcript | NM_024675.4 |
gDNA | chr16:g.23629645C>T |
cDNA | c.2509G>A |
Protein | p.E837K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407297.1 | chr16:g.23629645C>T | c.2509G>A | p.E837K | RefSeq | GRCh38/hg38 |
XM_017023672 | chr16:g.23629645C>T | c.2509G>A | p.E837K | RefSeq | GRCh38/hg38 |
XM_017023673 | chr16:g.23629645C>T | c.2509G>A | p.E837K | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23629645C>T | c.2509G>A | p.E837K | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23629645C>T | c.2509G>A | p.E837K | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23629645C>T | c.2509G>A | p.E837K | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23629645C>T | c.2509G>A | p.E837K | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23629645C>T | c.2509G>A | p.E837K | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23629645C>T | c.2509G>A | p.E837K | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23629645C>T | c.2509G>A | p.E837K | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23629645C>T | c.2509G>A | p.E837K | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23629645C>T | c.2509G>A | p.E837K | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23629645C>T | c.2509G>A | p.E837K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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