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Gene | PALB2 |
Variant | K695E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 K695E does not lie within any known functional domains of the Palb2 protein (UniProt.org). K695E has been identified in sequencing studies (PMID: 22842228), but has not been biochemically characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 K695E |
Transcript | NM_024675.4 |
gDNA | chr16:g.23630071T>C |
cDNA | c.2083A>G |
Protein | p.K695E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017023672 | chr16:g.23630071T>C | c.2083A>G | p.K695E | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23630071T>C | c.2083A>G | p.K695E | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23630071T>C | c.2083A>G | p.K695E | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23630071T>C | c.2083A>G | p.K695E | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23630071T>C | c.2083A>G | p.K695E | RefSeq | GRCh38/hg38 |
XM_017023673 | chr16:g.23630071T>C | c.2083A>G | p.K695E | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23630071T>C | c.2083A>G | p.K695E | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23630071T>C | c.2083A>G | p.K695E | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23630071T>C | c.2083A>G | p.K695E | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23630071T>C | c.2083A>G | p.K695E | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23630071T>C | c.2083A>G | p.K695E | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23630071T>C | c.2083A>G | p.K695E | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23630071T>C | c.2083A>G | p.K695E | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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