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Gene | PALB2 |
Variant | I1037T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 I1037T lies within WD repeat 4 of the Palb2 protein (UniProt.org). The functional effect of I1037T is conflicting as it results in decreased protein stability and impaired homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951), but demonstrates homology-directed DNA repair activity similar to wild-type Palb2 in a reporter assay in another study (PMID: 33964450). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 I1037T |
Transcript | NM_024675.4 |
gDNA | chr16:g.23621365A>G |
cDNA | c.3110T>C |
Protein | p.I1037T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_024675.3 | chr16:g.23621365A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
XM_017023672 | chr16:g.23621365A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
XM_011545946 | chr16:g.23621371A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23621365A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23621365A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
XM_011545947.2 | chr16:g.23621371A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23621365A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23621365A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
XM_011545946.2 | chr16:g.23621371A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
XM_017023671.1 | chr16:g.23621371A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23621365A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
XM_017023671 | chr16:g.23621371A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
XM_017023673 | chr16:g.23621365A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23621365A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
XM_011545947 | chr16:g.23621371A>G | c.3110T>C | p.I1037T | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PALB2 I1037T | unknown | PARP Inhibitor (Pan) |