Gene Variant Detail

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Gene PALB2
Variant T706I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PALB2 T706I does not lie within any known functional domains of the Palb2 protein (UniProt.org). T706I does not demonstrate reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31757951), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 T706I

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Transcript NM_024675.4
gDNA chr16:g.23630037G>A
cDNA c.2117C>T
Protein p.T706I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023672.2 chr16:g.23630037G>A c.2117C>T p.T706I RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23630037G>A c.2117C>T p.T706I RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23630037G>A c.2117C>T p.T706I RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23630037G>A c.2117C>T p.T706I RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23630037G>A c.2117C>T p.T706I RefSeq GRCh38/hg38
XM_017023673 chr16:g.23630037G>A c.2117C>T p.T706I RefSeq GRCh38/hg38
XM_017023672 chr16:g.23630037G>A c.2117C>T p.T706I RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23630037G>A c.2117C>T p.T706I RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23630037G>A c.2117C>T p.T706I RefSeq GRCh38/hg38
NM_024675 chr16:g.23630037G>A c.2117C>T p.T706I RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23630037G>A c.2117C>T p.T706I RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23630037G>A c.2117C>T p.T706I RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23630037G>A c.2117C>T p.T706I RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References