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Gene | PALB2 |
Variant | S859* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PALB2 S859* results in a premature truncation of the Palb2 protein at amino acid 859 of 1186 (UniProt.org). S859* has not been characterized however, due to the effects of other truncation mutations downstream of S859 (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 S859* |
Transcript | NM_024675.4 |
gDNA | chr16:g.23629214G>T |
cDNA | c.2576C>A |
Protein | p.S859* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |