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Gene | PALB2 |
Variant | A38V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 A38V lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). A38V demonstrates homology-directed DNA repair activity in cultured cells (PMID: 33811135), 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 A38V |
Transcript | NM_024675.4 |
gDNA | chr16:g.23637948G>A |
cDNA | c.113C>T |
Protein | p.A38V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407301.1 | chr16:g.23637948G>A | c.113C>T | p.A38V | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23637948G>A | c.113C>T | p.A38V | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23637948G>A | c.113C>T | p.A38V | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23637948G>A | c.113C>T | p.A38V | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23637948G>A | c.113C>T | p.A38V | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23637948G>A | c.113C>T | p.A38V | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23637948G>A | c.113C>T | p.A38V | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23637948G>A | c.113C>T | p.A38V | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23637948G>A | c.113C>T | p.A38V | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23637948G>A | c.113C>T | p.A38V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PALB2 A38V | Advanced Solid Tumor | no benefit | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, expressing PALB2 A38V did not confer sensitivity to Lynparza (olaparib)-induced growth inhibition in TP53 and PALB2 double knock-out mouse embryonic stem cells in culture (PMID: 33811135). | 33811135 |