PALB2 I1037T
Gene Variant Detail

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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

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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
XM_017023673.2 chr16:g.23621365A>G c.3110T>C p.I1037T RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23621365A>G c.3110T>C p.I1037T RefSeq GRCh38/hg38
NM_024675.3 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
XM_017023673 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_017023671.1 chr16:g.23621371A>G c.3110T>C p.I1037T RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23621365A>G c.3110T>C p.I1037T RefSeq GRCh38/hg38
NM_024675 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
XM_011545947 chr16:g.23621371A>G c.3110T>C p.I1037T RefSeq GRCh38/hg38
XM_011545946.2 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 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

Filtering

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  • Use simple literal full or partial string matches
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  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References