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Gene | PALB2 |
Variant | L607V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 L607V does not lie within any known functional domains of the Palb2 protein (UniProt.org). L607V has not been characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, Oct 2023). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 L607V |
Transcript | NM_024675.4 |
gDNA | chr16:g.23630335G>C |
cDNA | c.1819C>G |
Protein | p.L607V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407297.1 | chr16:g.23630335G>C | c.1819C>G | p.L607V | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23630335G>C | c.1819C>G | p.L607V | RefSeq | GRCh38/hg38 |
XM_017023672 | chr16:g.23630335G>C | c.1819C>G | p.L607V | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23630335G>C | c.1819C>G | p.L607V | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23630335G>C | c.1819C>G | p.L607V | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23630335G>C | c.1819C>G | p.L607V | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23630335G>C | c.1819C>G | p.L607V | RefSeq | GRCh38/hg38 |
XM_017023673 | chr16:g.23630335G>C | c.1819C>G | p.L607V | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23630335G>C | c.1819C>G | p.L607V | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23630335G>C | c.1819C>G | p.L607V | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23630335G>C | c.1819C>G | p.L607V | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23630335G>C | c.1819C>G | p.L607V | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23630335G>C | c.1819C>G | p.L607V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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