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Gene | PALB2 |
Variant | L972Q |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PALB2 L972Q lies within WD repeat 3 of the Palb2 protein (UniProt.org). L972Q confers a loss of function to the Palb2 protein as demonstrated by decreased protein stability and impaired homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 inact mut PALB2 L972Q |
Transcript | NM_024675.4 |
gDNA | chr16:g.23623050A>T |
cDNA | c.2915T>A |
Protein | p.L972Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_024675.4 | chr16:g.23623050A>T | c.2915T>A | p.L972Q | RefSeq | GRCh38/hg38 |
XM_017023671.1 | chr16:g.23623055_23623056delTTinsAA | c.2915_2916delTTinsAA | p.L972Q | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23623050A>T | c.2915T>A | p.L972Q | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23623050A>T | c.2915T>A | p.L972Q | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23621398A>T | c.2915T>A | p.L972Q | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23623050A>T | c.2915T>A | p.L972Q | RefSeq | GRCh38/hg38 |
XM_017023673 | chr16:g.23623050A>T | c.2915T>A | p.L972Q | RefSeq | GRCh38/hg38 |
XM_017023672 | chr16:g.23623050A>T | c.2915T>A | p.L972Q | RefSeq | GRCh38/hg38 |
XM_011545947 | chr16:g.23623055_23623056delAAinsTT | c.2915_2916delTTinsAA | p.L972Q | RefSeq | GRCh38/hg38 |
XM_011545946.2 | chr16:g.23623055_23623056delTTinsAA | c.2915_2916delTTinsAA | p.L972Q | RefSeq | GRCh38/hg38 |
XM_017023671 | chr16:g.23623055_23623056delAAinsTT | c.2915_2916delTTinsAA | p.L972Q | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23623050A>T | c.2915T>A | p.L972Q | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23623050A>T | c.2915T>A | p.L972Q | RefSeq | GRCh38/hg38 |
XM_011545947.2 | chr16:g.23623055_23623056delTTinsAA | c.2915_2916delTTinsAA | p.L972Q | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23621398A>T | c.2915T>A | p.L972Q | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23623050A>T | c.2915T>A | p.L972Q | RefSeq | GRCh38/hg38 |
XM_011545946 | chr16:g.23623055_23623056delAAinsTT | c.2915_2916delTTinsAA | p.L972Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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