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Gene | PALB2 |
Variant | E407* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PALB2 E407* results in a premature truncation of the Palb2 protein at amino acid 407 of 1186 (UniProt.org). E407* has not been characterized, however, due to the effects of other truncation mutations downstream of E407 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 inact mut PALB2 E407* |
Transcript | NM_024675.4 |
gDNA | chr16:g.23635327C>A |
cDNA | c.1219G>T |
Protein | p.E407* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407300.1 | chr16:g.23635327C>A | c.1219G>T | p.E407* | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23635327C>A | c.1219G>T | p.E407* | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23635327C>A | c.1219G>T | p.E407* | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23635327C>A | c.1219G>T | p.E407* | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23635327C>A | c.1219G>T | p.E407* | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23635327C>A | c.1219G>T | p.E407* | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23635327C>A | c.1219G>T | p.E407* | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23635327C>A | c.1219G>T | p.E407* | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23635327C>A | c.1219G>T | p.E407* | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23635327C>A | c.1219G>T | p.E407* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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