Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
Gene | PALB2 |
Variant | T1012I |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | PALB2 T1012I lies within WD repeat 4 of the Palb2 protein (UniProt.org). T1012I demonstrates homology-directed DNA repair activity similar to wild-type in cultured cells (PMID: 33811135, PMID: 35853885), and therefore, is predicted to have no effect on Palb2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 T1012I |
Transcript | NM_024675.4 |
gDNA | chr16:g.23621440G>A |
cDNA | c.3035C>T |
Protein | p.T1012I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_024675.4 | chr16:g.23621440G>A | c.3035C>T | p.T1012I | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23621440G>A | c.3035C>T | p.T1012I | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23621440G>A | c.3035C>T | p.T1012I | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23621440G>A | c.3035C>T | p.T1012I | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.23621440G>A | c.3035C>T | p.T1012I | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23621440G>A | c.3035C>T | p.T1012I | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PALB2 T1012I | no effect - predicted |