Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
Gene | PALB2 |
Variant | D584E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 D584E does not lie within any known functional domains of the Palb2 protein (UniProt.org). D584E has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, Oct 2023). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 D584E |
Transcript | NM_024675.4 |
gDNA | chr16:g.23630402A>C |
cDNA | c.1752T>G |
Protein | p.D584E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407301.1 | chr16:g.23630402A>C | c.1752T>G | p.D584E | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23630402A>C | c.1752T>G | p.D584E | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23630402A>C | c.1752T>G | p.D584E | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23630402A>C | c.1752T>G | p.D584E | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23630402A>C | c.1752T>G | p.D584E | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23630402A>C | c.1752T>G | p.D584E | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23630402A>C | c.1752T>G | p.D584E | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23630402A>C | c.1752T>G | p.D584E | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23630402A>C | c.1752T>G | p.D584E | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23630402A>C | c.1752T>G | p.D584E | RefSeq | GRCh38/hg38 |
XM_017023673 | chr16:g.23630402A>C | c.1752T>G | p.D584E | RefSeq | GRCh38/hg38 |
XM_017023672 | chr16:g.23630402A>C | c.1752T>G | p.D584E | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23630402A>C | c.1752T>G | p.D584E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|