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Gene | PALB2 |
Variant | P812L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 P812L lies within a region of the Palb2 protein required for POLH interaction and POLH DNA synthesis stimulation (UniProt.org). P812L has not been characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, Nov 2023). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 P812L |
Transcript | NM_024675.4 |
gDNA | chr16:g.23629719G>A |
cDNA | c.2435C>T |
Protein | p.P812L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407299.1 | chr16:g.23629719G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23629719G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23629719G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23629719G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
XM_017023672 | chr16:g.23629719G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23629719G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23629719G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
XM_011545946 | chr16:g.23629725G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23629719G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23629719G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
XM_011545947.2 | chr16:g.23629725G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
XM_017023673 | chr16:g.23629719G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
XM_017023671.1 | chr16:g.23629725G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23629719G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23629719G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
XM_011545947 | chr16:g.23629725G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23629719G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
XM_017023671 | chr16:g.23629725G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
XM_011545946.2 | chr16:g.23629725G>A | c.2435C>T | p.P812L | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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